{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:48:13Z","timestamp":1791355693581,"version":"4.3.1"},"reference-count":152,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2001,9,4]],"date-time":"2001-09-04T00:00:00Z","timestamp":999561600000},"content-version":"vor","delay-in-days":95,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2001,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Here we review those malformations for which a genetic basis has been elucidated or is suspected and the types of associated epilepsy. Schizencephaly (cleft brain) has a wide anatomo\u2010clinical spectrum, including partial epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the <jats:italic>EMX2<\/jats:italic> gene were reported in 13 patients. X\u2010linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in females and prenatal lethality in males. About 88% of patients have partial epilepsy. Filamin A mutations, all leading to a truncated protein, have been reported in three families and in sporadic patients. The most frequent forms of lissencephaly (agyria\u2010pachygyria) are caused by mutations of <jats:italic>LIS1. XLIS<\/jats:italic> mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females. The thickness of the heterotopic band and the degree of pachygyria correlate with the likelihood of developing Lennox\u2010Gastaut syndrome. Mutations of the coding region of <jats:italic>XLIS<\/jats:italic> were found in all reported pedigrees and in 38\u201391% of sporadic female patients with SBH. With few exceptions, children with <jats:italic>LIS1<\/jats:italic> mutations have isolated lissencephaly, with severe developmental delay and infantile spasms. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe developmental delay, seizures, and hypotonia has been associated with mutations of the reelin gene. Fukuyama congenital muscular dystrophy is due to mutations of the fukutin gene and is accompanied by polymicrogyria. Febrile seizures and epilepsy with generalized tonic\u2010convulsions appear in about 50% of children but are usually not severe. Tuberous sclerosis (TS) is caused by mutations in at least two genes, <jats:italic>TSC1<\/jats:italic> and <jats:italic>TSC2<\/jats:italic>; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms. <jats:italic>TSC1<\/jats:italic> mutations seem to cause a milder disease with fewer cortical tubers and lower frequency of seizures. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X\u2010linked dominant, X\u2010linked recessive inheritance, and association with 22q11.2 deletions. About 65% of patients have severe epilepsy, often Lennox\u2010Gastaut syndrome. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1569","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:25:39Z","timestamp":1033903539000},"page":"160-173","source":"Crossref","is-referenced-by-count":93,"title":["Epilepsy and genetic malformations of the cerebral 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