Genetic malformations of the cerebral cortex and epilepsy

Research output: Contribution to journalArticle

Abstract

We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in ∼20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly-pachygyria are caused by mutations of LIS1 and XLIS genes. LIS1 mutations cause a more severe malformation posteriorly. Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded. XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. Thickness of the band and severity of pachygyria correlate with the likelihood of developing Lennox-Gastaut syndrome. Mutations of the coding region of XLIS are found in all reported pedigrees and in 50% of sporadic female patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene need confirmation. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to Xq28 in some pedigrees, autosomal recessive inheritance in others, and association with 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2-21.

Original languageEnglish
Pages (from-to)32-37
Number of pages6
JournalEpilepsia
Volume46
Issue numberSUPPL. 1
DOIs
Publication statusPublished - 2005

Fingerprint

Lissencephaly
Cerebral Cortex
Epilepsy
Periventricular Nodular Heterotopia
Mutation
Classical Lissencephalies and Subcortical Band Heterotopias
Partial Epilepsy
Pedigree
Genes
Filamins
Infantile Spasms
Chromosomes, Human, Pair 21
Muscle Hypotonia
Genetic Heterogeneity
Seizures
Phenotype

Keywords

  • Bilateral periventricular nodular heterotopia
  • Cortical malformations
  • Epilepsy
  • Lissencephaly-pachygyria
  • Perisylvian polymicrogyria
  • Schizencephaly

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Genetic malformations of the cerebral cortex and epilepsy. / Guerrini, Renzo.

In: Epilepsia, Vol. 46, No. SUPPL. 1, 2005, p. 32-37.

Research output: Contribution to journalArticle

@article{5f34730b0a364b63ada023d6cf08b083,
title = "Genetic malformations of the cerebral cortex and epilepsy",
abstract = "We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90{\%} of patients have focal epilepsy. Filamin A mutations have been reported in all families and in ∼20{\%} of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly-pachygyria are caused by mutations of LIS1 and XLIS genes. LIS1 mutations cause a more severe malformation posteriorly. Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded. XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. Thickness of the band and severity of pachygyria correlate with the likelihood of developing Lennox-Gastaut syndrome. Mutations of the coding region of XLIS are found in all reported pedigrees and in 50{\%} of sporadic female patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene need confirmation. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to Xq28 in some pedigrees, autosomal recessive inheritance in others, and association with 22q11.2 deletion in some patients. About 65{\%} of patients have severe epilepsy, often Lennox-Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2-21.",
keywords = "Bilateral periventricular nodular heterotopia, Cortical malformations, Epilepsy, Lissencephaly-pachygyria, Perisylvian polymicrogyria, Schizencephaly",
author = "Renzo Guerrini",
year = "2005",
doi = "10.1111/j.0013-9580.2005.461010.x",
language = "English",
volume = "46",
pages = "32--37",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Blackwell Publishing Inc.",
number = "SUPPL. 1",

}

TY - JOUR

T1 - Genetic malformations of the cerebral cortex and epilepsy

AU - Guerrini, Renzo

PY - 2005

Y1 - 2005

N2 - We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in ∼20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly-pachygyria are caused by mutations of LIS1 and XLIS genes. LIS1 mutations cause a more severe malformation posteriorly. Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded. XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. Thickness of the band and severity of pachygyria correlate with the likelihood of developing Lennox-Gastaut syndrome. Mutations of the coding region of XLIS are found in all reported pedigrees and in 50% of sporadic female patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene need confirmation. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to Xq28 in some pedigrees, autosomal recessive inheritance in others, and association with 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2-21.

AB - We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in ∼20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly-pachygyria are caused by mutations of LIS1 and XLIS genes. LIS1 mutations cause a more severe malformation posteriorly. Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded. XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. Thickness of the band and severity of pachygyria correlate with the likelihood of developing Lennox-Gastaut syndrome. Mutations of the coding region of XLIS are found in all reported pedigrees and in 50% of sporadic female patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene need confirmation. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to Xq28 in some pedigrees, autosomal recessive inheritance in others, and association with 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2-21.

KW - Bilateral periventricular nodular heterotopia

KW - Cortical malformations

KW - Epilepsy

KW - Lissencephaly-pachygyria

KW - Perisylvian polymicrogyria

KW - Schizencephaly

UR - http://www.scopus.com/inward/record.url?scp=14944385610&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=14944385610&partnerID=8YFLogxK

U2 - 10.1111/j.0013-9580.2005.461010.x

DO - 10.1111/j.0013-9580.2005.461010.x

M3 - Article

C2 - 15816977

AN - SCOPUS:14944385610

VL - 46

SP - 32

EP - 37

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - SUPPL. 1

ER -