684:)-6. Other genes in the G protein-coupled receptor family have effects with this condition as well such as the outer brain development, but not enough is known to carry out all the research properly so the main focus is starting with the specific GR56 gene within this category. This malformation of the brain is a result of numerous small gyri taking over the surface of the brain that should otherwise be normally convoluted. This gene is currently under studies to help identify and contribute to the knowledge about this condition. It is studied to provide information on the causes along with insight into the mechanisms of normal cortical development and the regional patterning of the cerebral cortex using magnetic resonance imagine, MRI. Specifically found to polymicrogyria due to mutation of this gene are myelination defects. GPR56 is observed to be important for myelinations due to a mutation in this gene results in reduced white matter volume and signal changes as shown in MRI's. While the cellular roles of GPR56 in myelination remains unclear, this information will be used to further other studies done with this gene.
358:. BGP tends to show excessively folded and fused gyri of an abnormally thin cerebral cortex, and an absence of the normal six-layered structure. The abnormally thin cortex is a key factor that distinguishes this form of polymicrogyria from the others, which are characterized by an abnormally thick cortex. Most of the patients have cognitive and motor delay, spastic hemi- or quadriparesis, and seizures in varying degrees. The seizures also vary at age of onset, type, and severity. There have been pseudobulbar signs reported with BGP, which are also seen in patients with BPP. This association leads to the belief that there is overlap between patients with BGP and patients with grade 1 BPP.
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712:) scan, these both appear similar in that the cerebral cortex appears thickened. However, MRI with a T1 weighted inversion recovery will illustrate the gray-white junction that is characterized by patients with PMG. An MRI is also usually preferred over the CT scan because it has sub-millimeter resolution. The resolution displays the multiple folds within the cortical area, which is continuous with the neuropathology of an infected patient.
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mitigated in some patients with occupational, physical, and speech therapies. The important aspect to realize is PMG affects each patient differently and treatment options and mitigation techniques will vary. Many services are available to help, most children's hospitals can direct caregivers guidance where to get the information they need to seek assistance.
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Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA,
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Gross examination exposes a pattern of many small gyri clumped together, which causes an irregularity in the brain surface. The cerebral cortex, which in normal patients is six cell layers thick, is also thinned. As mentioned prior, the MRI of an affected patient shows what appears to be a thickening
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BPOP is located in the parasagittal and mesial regions of the parieto-occipital cortex. This form has been associated with IQ scores that range from average intelligence to mild intellectual disability, seizures, and cognitive slowing. The age of seizure onset has been found to occur anywhere from 20
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BFP appears to be a symmetrical polymicrogyria that extends anteriorly from the frontal poles to the posterior precentral gyrus, and inferiorly to the frontal operculum. Patients who had polymicrogyria distribution similar to this also experienced similar symptoms including delayed motor and language
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Smith, RS; Kenny, CJ; Ganesh, V; Jang, A; Borges-Monroy, R; Partlow, JN; Hill, RS; Shin, T; Chen, AY; Doan, RN; Anttonen, AK; Ignatius, J; Medne, L; Bönnemann, CG; Hecht, JL; Salonen, O; Barkovich, AJ; Poduri, A; Wilke, M; de Wit, MCY; Mancini, GMS; Sztriha, L; Im, K; Amrom, D; Andermann, E; Paetau,
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The region in which unilateral polymicrogyria occurs has been generalized into different cortical areas. Features associated with this form of polymicrogyria are similar to the other forms and include spastic hemiparesis, intellectual disability in variable degrees, and seizures. The features depend
329:
The grades move from most severe (Grade 1) to least severe (Grade 4). Although BFPP was the first form of polymicrogyria to be discovered, BPP was the first form to be described and is also the most common form of polymicrogyria. The clinical characterizations of BPP "include pseudobulbar palsy with
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This child presented with seizures. The coronal true inversion recovery sequence shows thickened and disordered cortex in superior frontal and cingulate gyri bilaterally (arrow). There are small convolutions visible at the corticomedullary junction. The appearance is that of cortical dysplasia, with
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greatly increased the information known about polymicrogyria within the past decade. Understanding about development, classification and localization of the disorder have greatly improved. For instance, localization of specific cortex regions affected by the disease was determined. This allowed for
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in general has been estimated to be 1 in 2,500 newborns. PMG is one of the best-known and most common malformations of cortical development, accounting for 20% of all cases. In the largest series of PMG cases, the bilateral perisylvian pattern was the most common topological pattern (52% of cases)
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The effects of PMG can be either focal or widespread. Although both can have physiological effects on the patient, it is hard to determine PMG as the direct cause because it can be associated with other brain malformations. Most commonly, PMG is associated with
Aicardi and Warburg micro syndromes.
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The PMG malformation cannot be reversed, but the symptoms can be treated. The removal of affected areas through hemispherectomy has been used in some cases to reduce the amount a seizure activity. Few patients are candidates for surgery. The global developmental delay that affects 94% can also be
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Fry, Andrew E.; Fawcett, Katherine A.; Zelnik, Nathanel; Yuan, Hongjie; Thompson, Belinda A N.; Shemer-Meiri, Lilach; Cushion, Thomas D.; Mugalaasi, Hood; Sims, David; Stoodley, Neil; Chung, Seo-Kyung; Rees, Mark I.; Patel, Chirag V.; Brueton, Louise A.; Layet, Valérie; Giuliano, Fabienne; Kerr,
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Significant technological advances have been made within the past few decades that have allowed more extensive studies to be made regarding syndromes from conditions such as polymicrogyria. Research, imaging, and analysis has shown that distribution of polymicrogyria does not always appear to be
309:
BPP is similar to the other types of polymicrogyria in that it is usually symmetrical, but BPP can vary among patients. BPP is characterized by its location; the cerebral cortex deep in the sylvian fissures is thickened and abnormally infolded, as well as the sylvian fissures extending more
708:(MRI) is used. First physicians must distinguish between polymicrogyria and pachygyria. Pachygria leads to the development of broad and flat regions in the cortical area, whereas the effect of PMG is the formation of multiple small gyri. Underneath a computerized tomography (
334:. Disorders in language development have also been associated with BPP, but the extent of language disorder depends on the severity of cortical damage. Patients who have BPP can also have pyramidal signs that vary in severity, and can be either unilateral or bilateral.
37:
polymicrogyria more likely than pachygyria due to the small convolutions visible. There are also small foci of grey matter signal in the corpus callosum, deep to the dysplastic cortex (double arrows). These probably represent areas of grey matter heterotopia.
596:-4. It results from both genetic and destructive events. While polymicrogyria is associated with genetic mutations, none of these are the sole cause of this abnormality. The cortical development of mammals requires specific cell functions that all involve
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Chang, Bernard; Walsh, Christopher A.; Apse, Kira; Bodell, Adria (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.).
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Michael P.; Banne, Ehud; Meiner, Vardiella; Lerman-Sagie, Tally; Helbig, Katherine L.; Kofman, Laura H.; Knight, Kristin M.; Chen, Wenjuan; Kannan, Varun; Hu, Chun; Kusumoto, Hirofumi; Zhang, Jin; Swanger, Sharon A.; et al. (2018).
1118:
Bhat, V; Girimaji, SC; Mohan, G; Arvinda, HR; Singhmar, P; Duvvari, MR; Kumar, A (Apr 15, 2011). "Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations".
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on the exact area and extent to which polymicrogyria has affected the cortex. Patients who have unilateral polymicrogyria have been reported to also have electrical status epilepticus during sleep (EPES), and all had seizures.
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The time of onset has yet to be identified; however, it has been found to occur before birth in either the earlier or later stages of brain development. Early stages include impaired proliferation and migration of
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diplegia of the facial, pharyngeal and masticory muscles (facio-pharyngo-glosso-masticatory paresis), pyramidal signs, and seizures." These can result in drooling, feeding issues, restricted tongue movement, and
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of the cerebral cortex because of the tiny folds that aggregate causing a more dense appearance. However, gross analysis shows that an affected patient can have as few as one to all six of these layers missing.
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The cause of polymicrogyria is unclear. It is generally agreed that PMG occurs during late neuronal migration (when majority of the neurons arrived at cerebral cortex after their starting points around the
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The symptoms experienced differ depending on what part of the brain is affected. There is no specific treatment to get rid of this condition, but there are medications that can control the symptoms such as
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696:
These syndromes both have frontoparieto polymicrogyria as their anomalies. To ensure proper diagnosis, doctors thus can examine a patient through neuroimaging or neuropathological techniques.
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posteriorly up to the parietal lobes and more vertically oriented. BPP has been classified into a grading system consisting of four different grades that describe the variations in severity:
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Wang, Doris D.; Knox, Renatta; Rolston, John D.; Englot, Dario J.; Barkovich, A. James; Tihan, Tarik; Auguste, Kurtis I.; Knowlton, Robert C.; Cornes, Susannah B.; Chang, Edward F. (2016).
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Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB (May 2010).
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Pathologically, PMG is defined as "an abnormally thick cortex formed by the piling upon each other of many small gyri with a fused surface." To view these microscopic characteristics,
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GPR56 protein structuregreen: signal peptideyellow: N-Glycosylation siteblue: GPS motiforange bracket: 108-177 aa STPpink bracket: 27-160 aa Ligand binding domain
Referenced article:
297:, global development delay, pyramidal signs, cerebral signs, and seizures. Esotropia is also known as dysconjugate gaze, and is a common feature of severe static
180:
The main patterns of polymicrogyria are: perisylvian (61%), generalised (13%), frontal (5%), and parasagittal parieto-occipital (3%) and 11% is associated with
565:. The Greek roots of the name describe its salient feature: many small gyri (convolutions in the surface of the brain). It is also characterized by shallow
680:
The gene GPR56 is a member of the adhesion G protein-coupled receptor family and is directly related to causing
Bilateral frontoparietal polymicrogyria, (
173:
random, which revealed different types polymicrogyria. A summary of clinical manifestations of each syndrome can be found below, in the section labelled "
354:
BGP is most severe in the perisylvian regions, but occurs in a generalised distribution. Associated factors include a reduced volume of white matter and
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Stutterd CA, Brock S, Stouffs K, Fanjul-Fernandez M, Lockhart PJ, McGillivray G, Mandelstam S, Pope K, Delatycki MB, Jansen A, Leventer RJ (2021).
502:(bilateral perisylvian PMG, intellectual disability, dysmorphic facial features and microcephaly). Apart from that, mutations in more than 30
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growth. Some mutations that affect the role of microtubules and are studied as possible contributors, but not causes, to polymicrogyria include
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for children with the diagnosis of PMG, there are some generalized clinical findings according to the areas of the brain that are affected.
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BFPP was one of the first discovered forms of polymicrogyria to have a gene identified linking to the syndromes caused. This gene is called
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clinical symptoms of patients to be linked with localized cortex areas affected. A gene that was identified to be a contributor to
2001:
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268:
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Bilateral parasagittal parieto-occipital polymicrogyria (BPPP) – Partial seizures, some with intellectual developmental disorder
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of the brain) or early cortical organization of fetal development. Evidence for both genetic and non-genetic causes exists.
386:
of developmental abnormalities, because children born with it may have a wide spectrum of other problems, including global
987:
Stutterd CA, Leventer RJ (June 2014). "Polymicrogyria: a common and heterogeneous malformation of cortical development".
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has also been identified, as well as other ion channels such as KCN, CACNA, GRIN, and GABAR. Other genes implicated are:
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Non-genetic causes include defects in placental oxygenation and in association with congenital infections, particularly
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Limited information was known about cerebral disorders until the development of modern technologies. Brain imaging and
1164:"Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria"
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277:. Symmetrical distribution is also evident in this form, but more distinctly, patients with BFPP were found to have
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1953:
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have been associated with PMG. Common genes associated with PMG are TUBA1A and PIK3R2. Association with the gene
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Bilateral frontoparietal polymicrogyria (BFPP) – Severe cognitive and motor delay, seizures, dysconjugate gaze,
126:
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1976:
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Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB (2011).
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and TUBB2B. TUBB2B mutations are known to contribute to polymicrogyria either with or without congenital
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The pathogenesis of polymicrogyria is still being researched for understanding though it is historically
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Grade 2: Perisylvian polymicrogyria extends past the perisylvian region, but not to either of the poles
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Bilateral generalized polymicrogyria (BGP) – Cognitive and motor delay of variable severity, seizures
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months to 15 years, and in most cases the seizures were intractable (meaning hard to control).
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developments, spastic hemiparesis or quadriparesis, and forms of mild intellectual disability.
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474:. In the BPP subtype of PMG, up to 75% may have mild to moderate intellectual disability.
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Grade 4: Perisylvian polymicrogyria is contained in the posterior perisylvian region only
1333:"Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias"
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1536:"Surgical management of medically refractory epilepsy in patients with polymicrogyria"
1071:"Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing"
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The incidences of PMG and its different forms are unknown. However, the frequency of
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86:. This abnormality can affect either one region of the brain or multiple regions.
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639:"GPR56 and the developing cerebral cortex: cells, matrix, and neuronal migration"
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494:(characterised by bilateral perisylvian PMG, heart defects, facial dysmorphism,
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in itself, nor does it describe the underlying cause of the brain malformation.
1987:
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806:"Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients"
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Another gene that has been associated with this condition is GRIN1 and GRIN2B.
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581:. When many of these small folds are packed tightly together, PMG may resemble
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321:
Grade 3: Perisylvian polymicrogyria is contained in the perisylvian region only
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1.3) Regulation of Human
Cerebral Cortical Folding and Oral Motor Development"
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1.3) Regulation of Human
Cerebral Cortical Folding and Oral Motor Development"
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301:. This differentiates BFPP from the other bilateral polymicrogyria syndromes.
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Bilateral frontal polymicrogyria (BFP) – Cognitive and motor delay, spastic
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Stutterd, CA; Dobyns, WB; Jansen, A; Mirzaa, G; Leventer, RJ (1993–2022).
2017:
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82:) creating excessive folding of the brain leading to an abnormally thick
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470:(e.g., abnormal facies or hand, feet, or digital anomalies), and 5% for
102:, delayed development or weakened muscles as some of the noted effects.
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Grade 1: Perisylvian polymicrogyria extends to either one or both poles
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1393:"De novo mutations in GRIN1 cause extensive bilateral polymicrogyria"
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144:. Statements consisting only of original research should be removed.
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R; Lehesjoki, AE; Walsh, CA; Lehtinen, MK (5 September 2018).
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followed by the unilateral perisylvian pattern (9% of cases).
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Chromosomal abnormalities have been identified in PMG such as
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Bilateral parasagittal parieto-occipital polymicrogyria (BPOP)
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70:) is a condition that affects the development of the human
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1477:"Polymicrogyria: pathology, fetal origins and mechanisms"
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The diagnosis of PMG is merely descriptive and is not a
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The sodium channel SCN3A has been implicated in BPP.
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Journal of
Medical Genetics; London Vol. 42, Iss. 5,
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1456:. Seattle (WA): University of Washington, Seattle.
1284:"Ion Channel Functions in Early Brain Development"
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440:signs, cognitive impairment, epilepsy, some with
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414:. Though it is difficult to make a predictable
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561:migration, resulting in structurally abnormal
458:, 70% for global developmental delay, 51% for
263:Bilateral frontoparietal polymicrogyria (BFPP)
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436:Bilateral perisylvian polymicrogyria (BPP) –
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1264:: CS1 maint: multiple names: authors list (
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628:muscles, as well as bilateral perisylvian.
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1475:Squier, Waney; Jansen, Anna (2014-01-01).
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868:"Genetics of the polymicrogyria syndromes"
774:Augmentative and alternative communication
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637:Singer K, Luo R, Jeong SJ, Piao X (2013).
382:Polymicrogyria may be just one piece of a
350:Bilateral generalised polymicrogyria (BGP)
305:Bilateral perisylvian polymicrogyria (BPP)
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454:Rates of symptoms in PMG include 78% for
160:Learn how and when to remove this message
866:Jansen, A.; Andermann, E. (1 May 2005).
630:
293:abnormalities. BFPP is characterized by
2002:Bilateral frontoparietal polymicrogyria
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779:Bilateral frontoparietal polymicrogyria
758:bilateral frontoparietal polymicrogyria
269:Bilateral frontoparietal polymicrogyria
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2091:Congenital disorders of nervous system
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1282:Smith, RS; Walsh, CA (February 2020).
585:(a few "thick folds" - a mild form of
200:Bilateral frontal polymicrogyria (BFP)
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1626:"Current concepts of polymicrogyria"
1481:Acta Neuropathologica Communications
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232:Bilateral perisylvian polymicrogyria
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1828:malformations and deformations of
1624:Barkovich, A. James (2010-06-01).
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1597:Villard, Laurent (August 2004) ,
530:(Bilateral perisylvian PMG), and
192:instead of usual location in the
1133:10.1111/j.1399-0004.2011.01686.x
989:Am J Med Genet C Semin Med Genet
557:Polymicrogyria is a disorder of
518:(Bilateral frontoparietal PMG),
510:(diffuse or asymmetric PMG) and
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1954:Agenesis of the corpus callosum
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785:Epilepsy Phenome/Genome Project
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1331:Kato, Mitsuhiro (2015-01-01).
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1:
810:Brain: A Journal of Neurology
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534:(Bilateral perisylvian PMG).
444:or lower motor neuron disease
1234:10.1016/j.neuron.2018.07.052
941:10.1016/j.neuron.2018.07.052
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716:Neuropathological techniques
690:
552:
522:(anterior predominant PMG),
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7:
1920:other reduction deformities
872:Journal of Medical Genetics
767:
600:, whether it is because of
140:the claims made and adding
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1300:10.1016/j.tins.2019.12.004
1087:10.1093/braincomms/fcaa221
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706:magnetic resonance imaging
388:developmental disabilities
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2016:
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1642:10.1007/s00234-009-0644-2
1494:10.1186/s40478-014-0080-3
1337:Frontiers in Neuroscience
1214:"Sodium Channel SCN3A (Na
921:"Sodium Channel SCN3A (Na
655:10.1007/s12035-012-8343-0
392:intellectual disabilities
362:Unilateral polymicrogyria
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1906:Congenital hydrocephalus
1350:10.3389/fnins.2015.00181
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1763:Polymicrogyria Overview
1453:Polymicrogyria Overview
1288:Trends in Neurosciences
1036:Polymicrogyria Overview
884:10.1136/jmg.2004.023952
700:Neuroimaging techniques
398:dysfunctions including
289:, as well as bilateral
182:gray matter heterotopia
677:
547:varicella zoster virus
1959:Septo-optic dysplasia
1911:Dandy–Walker syndrome
1606:Orphanet Encyclopedia
634:
569:, a slightly thicker
175:Clinical presentation
1409:10.1093/brain/awx358
1212:Lehtinen MK (2018).
1180:10.1002/ajmg.a.34165
1075:Brain Communications
1001:10.1002/ajmg.c.31399
822:10.1093/brain/awq078
563:cerebral hemispheres
1885:Chiari malformation
468:dysmorphic features
2056:Currarino syndrome
2027:Neural tube defect
1969:Hemimegalencephaly
1935:Microlissencephaly
1847:Neural tube defect
1749:External resources
753:genetic sequencing
740:cortical dysplasia
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485:ventricular system
371:Signs and symptoms
188:is located in the
125:possibly contains
74:by multiple small
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2012:
2011:
1925:Holoprosencephaly
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1552:10.1111/epi.13264
1228:(5): 905–913.e7.
1121:Clinical Genetics
935:(5): 905–913.e7.
816:(Pt 5): 1415–27.
390:, mild to severe
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1610:
1609:
1603:
1599:"Polymicrogyria"
1594:
1583:
1580:
1574:
1573:
1563:
1531:
1525:
1524:
1514:
1496:
1472:
1466:
1465:
1446:
1431:
1430:
1420:
1387:
1381:
1380:
1370:
1352:
1328:
1322:
1321:
1311:
1279:
1270:
1269:
1263:
1255:
1245:
1208:
1202:
1201:
1191:
1174:(9): 2071–2077.
1168:Am J Med Genet A
1159:
1153:
1152:
1115:
1109:
1108:
1098:
1066:
1060:
1059:
1057:
1055:
1030:
1021:
1020:
984:
963:
962:
952:
915:
906:
905:
895:
863:
844:
843:
833:
801:
781:(genetic lesion)
676:
666:
624:or the external
492:22q11.2 deletion
356:ventriculomegaly
252:
251:
227:
207:
206:
165:
158:
154:
151:
145:
142:inline citations
118:
117:
110:
57:
56:
31:
19:
18:
2111:
2110:
2106:
2105:
2104:
2102:
2101:
2100:
2096:Tubulinopathies
2081:
2080:
2079:
2070:
2044:
2008:
1945:Hydranencephaly
1889:
1832:
1823:
1793:
1788:
1787:
1744:
1743:
1690:
1676:
1675:
1622:
1613:
1601:
1595:
1586:
1581:
1577:
1532:
1528:
1473:
1469:
1447:
1434:
1388:
1384:
1329:
1325:
1280:
1273:
1257:
1256:
1217:
1209:
1205:
1160:
1156:
1116:
1112:
1067:
1063:
1053:
1051:
1039:. Seattle, US:
1031:
1024:
985:
966:
924:
916:
909:
864:
847:
802:
798:
793:
770:
749:
736:
727:
718:
702:
693:
604:, specifically
555:
539:cytomegalovirus
526:(Diffuse PMG),
480:
373:
364:
352:
343:
327:
307:
271:
265:
246:
205:
202:
194:cerebral cortex
166:
155:
149:
146:
131:
119:
115:
108:
51:
17:
12:
11:
5:
2109:
2099:
2098:
2093:
2076:
2075:
2072:
2071:
2069:
2068:
2063:
2058:
2052:
2050:
2046:
2045:
2043:
2042:
2037:
2031:
2029:
2020:
2014:
2013:
2010:
2009:
2007:
2006:
2005:
2004:
1997:Polymicrogyria
1993:
1992:
1991:
1990:
1988:Schizencephaly
1985:
1972:
1971:
1966:
1964:Megalencephaly
1961:
1956:
1950:
1949:
1948:
1947:
1942:
1937:
1932:
1927:
1916:
1915:
1914:
1913:
1903:
1897:
1895:
1891:
1890:
1888:
1887:
1882:
1877:
1876:
1875:
1870:
1865:
1860:
1851:
1849:
1840:
1834:
1833:
1830:nervous system
1822:
1821:
1814:
1807:
1799:
1790:
1789:
1786:
1785:
1776:
1765:
1753:
1752:
1750:
1746:
1745:
1742:
1741:
1730:
1719:
1704:
1691:
1686:
1685:
1683:
1682:Classification
1674:
1673:
1636:(6): 479–487.
1630:Neuroradiology
1611:
1584:
1575:
1546:(1): 151–161.
1526:
1467:
1432:
1403:(3): 698–712.
1382:
1323:
1294:(2): 103–114.
1271:
1215:
1203:
1154:
1110:
1081:(1): fcaa221.
1061:
1022:
964:
922:
907:
878:(5): 369–378.
845:
795:
794:
792:
789:
788:
787:
782:
776:
769:
766:
748:
745:
735:
732:
726:
723:
717:
714:
701:
698:
692:
689:
643:Mol. Neurobiol
610:cell migration
554:
551:
479:
476:
452:
451:
448:
445:
442:arthrogryposis
434:
427:
372:
369:
363:
360:
351:
348:
342:
339:
326:
325:
322:
319:
316:
312:
306:
303:
299:encephalopathy
267:Main article:
264:
261:
254:
253:
240:
234:
233:
229:
228:
220:
219:
216:
212:
211:
210:Polymicrogyria
203:
201:
198:
168:
167:
122:
120:
113:
107:
104:
64:Polymicrogyria
59:
58:
45:
39:
38:
33:
32:
24:
23:
22:Polymicrogyria
15:
9:
6:
4:
3:
2:
2108:
2097:
2094:
2092:
2089:
2088:
2086:
2067:
2066:Syringomyelia
2064:
2062:
2059:
2057:
2054:
2053:
2051:
2047:
2041:
2038:
2036:
2033:
2032:
2030:
2028:
2024:
2021:
2019:
2015:
2003:
2000:
1999:
1998:
1995:
1994:
1989:
1986:
1984:
1981:
1980:
1979:
1978:
1974:
1973:
1970:
1967:
1965:
1962:
1960:
1957:
1955:
1952:
1951:
1946:
1943:
1941:
1938:
1936:
1933:
1931:
1930:Lissencephaly
1928:
1926:
1923:
1922:
1921:
1918:
1917:
1912:
1909:
1908:
1907:
1904:
1902:
1899:
1898:
1896:
1892:
1886:
1883:
1881:
1880:Encephalocele
1878:
1874:
1871:
1869:
1866:
1864:
1861:
1858:
1857:
1856:
1853:
1852:
1850:
1848:
1844:
1841:
1839:
1835:
1831:
1827:
1820:
1815:
1813:
1808:
1806:
1801:
1800:
1797:
1784:
1780:
1777:
1775:
1771:
1770:
1766:
1764:
1760:
1759:
1755:
1754:
1751:
1747:
1740:
1736:
1735:
1731:
1729:
1725:
1724:
1720:
1718:
1714:
1713:
1709:
1705:
1702:
1701:
1697:
1693:
1692:
1689:
1684:
1680:
1669:
1665:
1660:
1655:
1651:
1647:
1643:
1639:
1635:
1631:
1627:
1620:
1618:
1616:
1607:
1600:
1593:
1591:
1589:
1579:
1571:
1567:
1562:
1557:
1553:
1549:
1545:
1541:
1537:
1530:
1522:
1518:
1513:
1508:
1504:
1500:
1495:
1490:
1486:
1482:
1478:
1471:
1463:
1459:
1455:
1454:
1445:
1443:
1441:
1439:
1437:
1428:
1424:
1419:
1414:
1410:
1406:
1402:
1398:
1394:
1386:
1378:
1374:
1369:
1364:
1360:
1356:
1351:
1346:
1342:
1338:
1334:
1327:
1319:
1315:
1310:
1305:
1301:
1297:
1293:
1289:
1285:
1278:
1276:
1267:
1261:
1253:
1249:
1244:
1239:
1235:
1231:
1227:
1223:
1219:
1207:
1199:
1195:
1190:
1185:
1181:
1177:
1173:
1169:
1165:
1158:
1150:
1146:
1142:
1138:
1134:
1130:
1127:(6): 532–40.
1126:
1122:
1114:
1106:
1102:
1097:
1092:
1088:
1084:
1080:
1076:
1072:
1065:
1050:
1046:
1042:
1038:
1037:
1029:
1027:
1018:
1014:
1010:
1006:
1002:
998:
995:(2): 227–39.
994:
990:
983:
981:
979:
977:
975:
973:
971:
969:
960:
956:
951:
946:
942:
938:
934:
930:
926:
914:
912:
903:
899:
894:
889:
885:
881:
877:
873:
869:
862:
860:
858:
856:
854:
852:
850:
841:
837:
832:
827:
823:
819:
815:
811:
807:
800:
796:
786:
783:
780:
777:
775:
772:
771:
765:
763:
759:
754:
744:
741:
731:
722:
713:
711:
707:
697:
688:
685:
683:
674:
670:
665:
660:
656:
652:
649:(1): 186–96.
648:
644:
640:
633:
629:
627:
623:
619:
615:
611:
607:
606:cell division
603:
599:
595:
594:heterogeneous
590:
588:
587:lissencephaly
584:
580:
577:and enlarged
576:
572:
568:
564:
560:
550:
548:
544:
540:
535:
533:
529:
525:
521:
517:
513:
509:
505:
501:
500:1p36 deletion
497:
493:
488:
486:
475:
473:
469:
465:
461:
457:
449:
446:
443:
439:
435:
432:
428:
425:
424:quadriparesis
421:
420:
419:
417:
413:
409:
405:
401:
397:
393:
389:
385:
380:
378:
368:
359:
357:
347:
338:
335:
333:
323:
320:
317:
314:
313:
311:
302:
300:
296:
292:
288:
284:
280:
276:
270:
260:
250:
244:
241:
239:
235:
230:
226:
221:
217:
213:
208:
197:
195:
191:
187:
183:
178:
176:
164:
161:
153:
143:
139:
135:
129:
128:
123:This section
121:
112:
111:
103:
101:
95:
93:
87:
85:
81:
77:
73:
69:
65:
55:
49:
46:
44:
40:
34:
30:
25:
20:
2040:Rachischisis
2035:Spina bifida
1996:
1983:Porencephaly
1975:
1919:
1901:Microcephaly
1873:Iniencephaly
1778:
1767:
1756:
1732:
1721:
1706:
1694:
1633:
1629:
1605:
1578:
1543:
1539:
1529:
1484:
1480:
1470:
1452:
1400:
1396:
1385:
1340:
1336:
1326:
1291:
1287:
1260:cite journal
1225:
1221:
1206:
1171:
1167:
1157:
1124:
1120:
1113:
1078:
1074:
1064:
1052:. Retrieved
1035:
992:
988:
932:
928:
875:
871:
813:
809:
799:
750:
737:
734:Epidemiology
728:
719:
703:
694:
686:
679:
646:
642:
598:microtubules
591:
556:
536:
496:microcephaly
489:
481:
472:macrocephaly
464:microcephaly
453:
438:Pseudobulbar
381:
374:
365:
353:
344:
336:
328:
308:
291:white matter
272:
257:
190:white matter
179:
171:
156:
147:
124:
96:
88:
67:
63:
62:
2018:Spinal cord
1855:Anencephaly
1758:GeneReviews
1041:GeneReviews
575:heterotopia
573:, neuronal
433:dysfunction
408:respiratory
215:Other names
186:grey matter
92:neuroblasts
2085:Categories
1940:Pachygyria
1826:Congenital
1734:DiseasesDB
1608:, Orphanet
791:References
583:pachygyria
579:ventricles
466:, 45% for
462:, 50% for
460:spasticity
431:cerebellar
426:, epilepsy
410:problems,
406:problems,
404:swallowing
332:dysarthria
287:brain stem
283:cerebellum
150:March 2017
134:improve it
1868:Acalvaria
1650:1432-1920
1540:Epilepsia
1503:2051-5960
1359:1662-4548
725:Treatment
691:Diagnosis
553:Pathology
416:prognosis
295:esotropia
243:Neurology
238:Specialty
138:verifying
106:Syndromes
80:microgyri
48:Neurology
43:Specialty
1977:CNS cyst
1859:Acephaly
1783:Q2991265
1769:Orphanet
1668:20198472
1570:26647903
1521:25047116
1462:20301504
1427:29365063
1377:26052266
1318:31959360
1252:30146301
1198:21834044
1149:45190332
1141:21496009
1105:33604570
1049:20301504
1017:24534275
1009:24888723
959:30146301
902:15863665
840:20403963
768:See also
673:23001883
622:fibrosis
559:neuronal
543:syphilis
456:epilepsy
412:seizures
384:syndrome
100:seizures
1863:Acrania
1779:Scholia
1728:D054220
1703:: Q04.3
1659:2872023
1561:5237579
1512:4149230
1418:5837214
1368:4439546
1343:: 181.
1309:7092371
1243:6226006
1189:3616765
1096:7878248
1054:3 April
950:6226006
893:1736054
831:2859156
747:History
710:CT scan
664:3538897
614:neurite
602:mitosis
377:disease
281:of the
279:atrophy
132:Please
1666:
1656:
1648:
1568:
1558:
1519:
1509:
1501:
1487:: 80.
1460:
1425:
1415:
1375:
1365:
1357:
1316:
1306:
1250:
1240:
1222:Neuron
1196:
1186:
1147:
1139:
1103:
1093:
1047:
1015:
1007:
957:
947:
929:Neuron
900:
890:
838:
828:
671:
661:
626:ocular
618:TUBA1A
571:cortex
545:, and
532:PIK3CA
520:TUBB2B
498:) and
400:speech
245:
84:cortex
50:
2049:Other
1894:Other
1838:Brain
1774:35981
1739:33975
1717:742.2
1602:(PDF)
1397:Brain
1145:S2CID
1013:S2CID
762:GPR56
567:sulci
516:GPR56
512:SCN3A
508:WDR62
504:genes
478:Cause
396:motor
275:GPR56
72:brain
1723:MeSH
1712:9-CM
1664:PMID
1646:ISSN
1566:PMID
1517:PMID
1499:ISSN
1458:PMID
1423:PMID
1373:PMID
1355:ISSN
1314:PMID
1266:link
1248:PMID
1194:PMID
1137:PMID
1101:PMID
1056:2022
1045:PMID
1005:PMID
993:166C
955:PMID
898:PMID
836:PMID
760:was
682:BFPP
669:PMID
528:AKT3
524:NDE1
402:and
285:and
76:gyri
1708:ICD
1696:ICD
1654:PMC
1638:doi
1556:PMC
1548:doi
1507:PMC
1489:doi
1413:PMC
1405:doi
1401:141
1363:PMC
1345:doi
1304:PMC
1296:doi
1238:PMC
1230:doi
1184:PMC
1176:doi
1172:155
1129:doi
1091:PMC
1083:doi
997:doi
945:PMC
937:doi
888:PMC
880:doi
826:PMC
818:doi
814:133
659:PMC
651:doi
612:or
589:).
218:PMG
196:).
177:".
136:by
68:PMG
2087::
1781::
1772::
1761::
1737::
1726::
1715::
1700:10
1662:.
1652:.
1644:.
1634:52
1632:.
1628:.
1614:^
1604:,
1587:^
1564:.
1554:.
1544:57
1542:.
1538:.
1515:.
1505:.
1497:.
1483:.
1479:.
1435:^
1421:.
1411:.
1399:.
1395:.
1371:.
1361:.
1353:.
1339:.
1335:.
1312:.
1302:.
1292:43
1290:.
1286:.
1274:^
1262:}}
1258:{{
1246:.
1236:.
1226:99
1224:.
1220:.
1192:.
1182:.
1170:.
1166:.
1143:.
1135:.
1125:80
1123:.
1099:.
1089:.
1077:.
1073:.
1043:.
1025:^
1011:.
1003:.
991:.
967:^
953:.
943:.
933:99
931:.
927:.
910:^
896:.
886:.
876:42
874:.
870:.
848:^
834:.
824:.
812:.
808:.
764:.
667:.
657:.
647:47
645:.
641:.
608:,
549:.
541:,
394:,
1818:e
1811:t
1804:v
1710:-
1698:-
1688:D
1670:.
1640::
1572:.
1550::
1523:.
1491::
1485:2
1464:.
1429:.
1407::
1379:.
1347::
1341:9
1320:.
1298::
1268:)
1254:.
1232::
1216:V
1200:.
1178::
1151:.
1131::
1107:.
1085::
1079:3
1058:.
1019:.
999::
961:.
939::
923:V
904:.
882::
842:.
820::
675:.
653::
184:(
163:)
157:(
152:)
148:(
130:.
78:(
66:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
