KEGG   DISEASE: PolymicrogyriaHelp
Entry
H00271                      Disease                                

Name
Polymicrogyria
  Supergrp
Neuronal migration disorder [DS:H01835]
Description
Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H00271  Polymicrogyria
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA05  Cerebral structural developmental anomalies
     H00271  Polymicrogyria
BRITE hierarchy
Gene
ADGRG1 [HSA:9289] [KO:K08450]
FIG4 [HSA:9896] [KO:K22913]
PI4KA [HSA:5297] [KO:K00888]
EOMES [HSA:8320] [KO:K10173]
Other DBs
ICD-11: LA05.50
ICD-10: Q04.8
MeSH: D054220
OMIM: 606854 615752 612691 616531 300388
Reference
  Authors
Guerrini R, Dobyns WB, Barkovich AJ
  Title
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
  Journal
Trends Neurosci 31:154-62 (2008)
DOI:10.1016/j.tins.2007.12.004
Reference
  Authors
Jansen A, Andermann E
  Title
Genetics of the polymicrogyria syndromes.
  Journal
J Med Genet 42:369-78 (2005)
DOI:10.1136/jmg.2004.023952
Reference
  Authors
Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noe E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E
  Title
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
  Journal
Neurology 82:1068-75 (2014)
DOI:10.1212/WNL.0000000000000241
Reference
  Authors
Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U
  Title
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
  Journal
Hum Mol Genet 24:3732-41 (2015)
DOI:10.1093/hmg/ddv117
Reference
  Authors
Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attie-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S
  Title
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
  Journal
Nat Genet 39:454-6 (2007)
DOI:10.1038/ng1993

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