Familial Epilepsy with Unilateral and Bilateral Malformations of Cortical Development

Bartolomei, Fabricē; Gavaret, Martine; Dravet, Charlotte; Guerrini, Renzo

doi:10.1111/j.1528-1157.1999.tb01987.x

Cited by 31 publications

(24 citation statements)

References 22 publications

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“…Consistent familial recurrence has been reported only for bilateral perisylvian polymicrogyria [Guerreiro et al, 2000], which is sporadic in the great majority of patients. A genetic basis is also possible for unilateral polymicrogyria, at least in some cases [Bartolomei et al, 1999] …”

Section: Polymicrogyriamentioning

confidence: 98%

Epilepsy and genetic malformations of the cerebral cortex

Guerrini

Carrozzo²

2001

Am. J. Med. Genet.

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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: Polymicrogyriamentioning

confidence: 98%

Epilepsy and genetic malformations of the cerebral cortex

Guerrini

Carrozzo²

2001

Am. J. Med. Genet.

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188

181

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“…3 Most reported unilateral cases have been sporadic, with no indication of an obvious genetic cause, but the existence of families in which unilateral and bilateral PMG coexist raises the possibility of shared genetic influences. 4,5 We sought to identify and study families in which unilateral PMG was present in more than one individual.Methods. For all subjects, the diagnosis of PMG was made based on brain MRI; in one case, PMG was also confirmed pathologically.…”

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confidence: 99%

A familial syndrome of unilateral polymicrogyria affecting the right hemisphere

Chang

Apse²,

Caraballo³

et al. 2006

Neurology

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A number of familial syndromes of bilateral polymicrogyria (PMG) have been described, but reported unilateral PMG cases have generally been sporadic. The authors identified four families in which unilateral right-sided PMG on MRI was present in more than one individual, with pathologic confirmation in one. Core clinical features included contralateral hemiparesis, developmental delay, and focal seizures. The authors' findings suggest that unilateral PMG exists in a familial syndrome of probable germline genetic origin.

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“…Several polymicrogyria syndromes have been described that are characterized by different patterns of lobar expression (Barkovich et al., 1999), suggesting mutations of regionally expressed developmental genes. The most frequently observed syndromes of regional polymicrogyria include bilateral perisylvian polymicrogyria (Guerrini et al., 1992b; Kuzniecky et al., 1993), bilateral frontal polymicrogyria (Guerrini et al., 2000), bilateral frontoparietal polymicrogyria (BFPP) (Piao et al., 2002, 2004), bilateral parasagittal parietooccipital polymicrogyria (Guerrini et al., 1997), and unilateral multilobar polymicrogyria (Guerrini et al., 1998; Bartolomei et al., 1999).…”

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confidence: 99%

“…Bilateral parasagittal parietooccipital polymicrogyria has been reported in only sporadic patients, all having a homogeneous clinical syndrome associating mild cognitive impairment and complex partial seizures of occipitotemporal origin (Guerrini et al., 1998). Unilateral multilobar polymicrogyria is, with few exceptions, sporadic (Bartolomei et al., 1999; Chang et al., 2006), and is often associated with mild cognitive impairment, hemiparesis, and an age‐related syndrome of epilepsy with sleep‐related electrical status epilepticus and cognitive deterioration (Guerrini et al., 1998; Caraballo et al., 1999).…”

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confidence: 99%

Bilateral frontoparietal polymicrogyria, Lennox‐Gastaut syndrome, and GPR56 gene mutations

et al. 2009

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Summary Purpose: Bilateral frontoparietal polymicrogyria (BFPP) has been reported in sporadic patients and in recessive pedigrees. Eleven mutations in GPR56, a gene encoding an evolutionarily dynamic G‐protein–coupled receptor, have been identified in 29 patients from 18 families. The clinical features of BFPP include severe mental retardation, motor and language impairment, and epilepsy. No detailed description of the epilepsy is available for the patients reported to date. We report three consanguineous families in which four affected individuals with BFPP and GPR56 mutations had Lennox‐Gastaut syndrome. Methods: Family studies, brain magnetic resonance imaging (MRI), electroencephalography (EEG)‐video recordings, and mutation analysis. Results: In Family 1, with one affected proband, we found an R565W change in the second extracellular loop of GPR56, involving a highly conserved aminoacidic residue. In Family 2, with one affected proband, we found an R79X change affecting the protein N‐terminus and predicted to cause a premature truncation with loss of the G‐protein–coupled receptor proteolytic site. In family 3, with two affected siblings, we found an R33P substitution in the protein N‐terminus, involving a highly conserved aminoacidic residue. Epilepsy, present in all four patients, had started between ages 1 and 8 years, with infantile spasms in one patient and with de novo Lennox‐Gastaut syndrome in the remaining three. All patients had Lennox‐Gastaut syndrome when last observed, at ages 13 to 32 years. Discussion: Several genes, when mutated, can cause malformations of cortical development that have been associated with the Lennox‐Gastaut syndrome. BFPP caused by GPR56 mutations represents an additional, although rare, genetically determined cause of Lennox‐Gastaut syndrome.

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Familial Epilepsy with Unilateral and Bilateral Malformations of Cortical Development

Cited by 31 publications

References 22 publications

Epilepsy and genetic malformations of the cerebral cortex

Epilepsy and genetic malformations of the cerebral cortex

A familial syndrome of unilateral polymicrogyria affecting the right hemisphere

Bilateral frontoparietal polymicrogyria, Lennox‐Gastaut syndrome, and GPR56 gene mutations

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