Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.

Pinard, Jean Marc; Motté, Jacques; Chiron, Catherine; Racine, Brian; Andermann, Eva; Dulac, Olivier

doi:10.1136/jnnp.57.8.914

Cited by 101 publications

(52 citation statements)

References 31 publications

(6 reference statements)

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“…In general, the thicker the heterotopic band the higher the chances of ®nding a pachygyric cortical surface [Barkovich et al, 1994]. XLIS lissencephaly and SBH have been observed in different individuals from the same family [Pinard et al, 1994;Matsumoto et al, 2001]. Pathological studies of both lissencephaly and SBH demonstrate incomplete neuronal migration.…”

Section: Classical Lissencephaly and Subcortical Band Heterotopia (Thmentioning

confidence: 96%

Epilepsy and genetic malformations of the cerebral cortex

Guerrini

Carrozzo²

2001

Am. J. Med. Genet.

188

181

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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-clinical spectrum, including partial epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene were reported in 13 patients. X-linked 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-pachygyria) are caused by mutations of LIS1. XLIS 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-Gastaut syndrome. Mutations of the coding region of XLIS were found in all reported pedigrees and in 38-91% of sporadic female patients with SBH. With few exceptions, children with LIS1 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-convulsions appear in about 50% of children but are usually not severe. Tuberous sclerosis (TS) is caused by mutations in at least two genes, TSC1 and TSC2; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms. TSC1 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-linked dominant, X-linked recessive inheritance, and association with 22q11.2 deletions. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome.

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Section: Classical Lissencephaly and Subcortical Band Heterotopia (Thmentioning

confidence: 96%

Epilepsy and genetic malformations of the cerebral cortex

Guerrini

Carrozzo²

2001

Am. J. Med. Genet.

188

181

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“…All other cases appear to be X linked. From cases described by Pinard et al [1994], Scheffer et al [1994], and Toyoma et al [1998], an X-linked dominant condition of pachygyria, manifesting as milder mental subnormality, seizures, and subcortical band heterotopias in carrier females has been delineated. The gene doublecortin was cloned and is found to be responsible for this syndrome [Des Portes et al, 1998;Gleeson et al, 1998].…”

Section: Discussionmentioning

confidence: 99%

Pachygyria/hypogenitalism: A monogenic syndrome

et al. 1999

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“…Affected double cortex patients have varying degrees of epilepsy and mental retardation, while lissencephaly patients have profound seizures and mental retardation (2,8). Inheritance of double cortex in daughters and lissencephaly in sons of double cortex females suggested Xlinked dominant inheritance (23). Linkage was previously established to Xq21.3-q24 within an approximately 12-cM candidate gene region defined by recombination events with the centromeric marker DXS8020 and the telomeric marker DXS1072 (6,26).…”

mentioning

confidence: 97%