Epilepsies with single gene inheritance
Reference (63)
- et al.
Genetics of epilepsy
Multifactorial inheritance of generalized and focal epilepsy
Online Mendelian Inheritance in Man, OMIM (TM)
(1996)Identification and characterization of the tuberous sclerosis gene on chromosome 16
Cell
(1993)- et al.
Refined localization of TSC1 by combined analysis of 9834 and 16p13 data in 14 tuberous sclerosis families
Hum. Genet.
(1994) - et al.
A locus for cerebral cavernous malformations maps to chromosome 7q in two families
Genomics
(1995) - et al.
Unstable expansion of CAG repeat in hereditary dentaeorubral-pallidoluysian atrophy (DRPLA)
Nat. Genet.
(1994) - et al.
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
Nat. Genet.
(1994) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
Cell
(1993)- et al.
Causal heterogeneity in isolated lissencephaly
Neurology
(1992)
Isolation of a Miller-Dieker lissencephaly gene conttining G protein β-subunit-like repeats
Nature
(1993)
Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
Nat. Genet.
(1996)
The gene for a novel recessively inherited human childhood epilepsy with progressive mental retardation maps to the distal short arm of chromosome 8
The fragile X genotype is characterized by an unstable region of DNA
Science
(1991)
Periventricular heterotopias: an X-linked dominant epilepsy locus causing aberrant cortical development
Neuron
(1996)
Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene
J. Neurol. Neurosurg. Psychiatry
(1994)
Progressive myoclonus epilepsies: clinical and genetic aspects
Epilepsia
(1993)
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPMI)
Science
(1996)
Juvenile myoclonic epilepsy may be linked to the Bf and HLA loci on human chromosome 6
Am. J. Med. Genet.
(1988)
The phenotypic spectrum related to the human epilepsy susceptibility gene ‘EJM1’
Ann. Neurol.
(1995)
Juvenile myoclonic epilepsy locus in chromosome 6p21.2-pll: linkage to convulsions and electroencephalography trait
Am. J. Hum. Genet.
(1995)
Linkage analysis of idiopathic generalised epilepsy (IGE) and marker loci on chromosome by in families of patients with juvenile myoclonic epilepsy no evidence of an epilepsy locus in the HLA region
Am. J. Hum. Genet.
(1993)
Benign familial neonatal convulsions
Benign familial neonatal convulsions linked to genetic markers on chromosome 20
Nature
(1989)
Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20
Hum. Genet.
(1992)
Searching for human epilepsy genes: a progress report
Brain Pathol.
(1993)
Seizure characteristics in chromosome 20 benign familial neonatal convulsions
Neurology
(1993)
Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20
Arch. Neurol.
(1994)
Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q
Am. J. Hum. Genet.
(1993)
Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q
Hum. Genet.
(1995)
Borderland of epilepsy, with special references to febrile convulsions and so-called infantile convulsions (in Japanese)
Seishin Igaku (Tokyo)
(1963)
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Copyright © 1997 Published by Elsevier B.V.