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Nat Genet. 1995 May;10(1):4-6.
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2.
The epilepsies comprise a group of syndromes that are divided into generalized and partial (focal) types. Familial occurrence has long been recognized but progress in mapping epilepsy genes has been slow except for rare cases where the inheritance is easily determined from classical genetic studies. Linkage is established for three generalized syndromes: the EBN1 and EBN2 genes for benign familial neonatal convulsions (BFNC) map to chromosomes 20q and 8q (refs 2-5), the EPM1 gene for Unverricht-Lundborg disease maps to 21q (ref. 6) and the gene for the northern epilepsy syndrome maps to 8p (ref. 7). A claim for linkage of the EJM1 gene for the common generalized syndrome of juvenile myoclonic epilepsy to 6p is currently in dispute. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) was recently described in five families. We now report the chromosomal assignment, to 20q13.2, for the gene for ADNFLE in one large Australian kindred with 27 affected individuals spanning six generations.
PMID: 7647781 [PubMed - indexed for MEDLINE]
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Cited by 12 PubMed Central articles
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Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy.
Klaassen A, Glykys J, Maguire J, Labarca C, Mody I, Boulter J.
Proc Natl Acad Sci U S A. 2006 Dec 12; 103(50):19152-7. Epub 2006 Dec 4.
[Proc Natl Acad Sci U S A. 2006]
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Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.
Bowser DN, Wagner DA, Czajkowski C, Cromer BA, Parker MW, Wallace RH, Harkin LA, Mulley JC, Marini C, Berkovic SF, et al.
Proc Natl Acad Sci U S A. 2002 Nov 12; 99(23):15170-5. Epub 2002 Nov 1.
[Proc Natl Acad Sci U S A. 2002]
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ReviewGenetics of childhood epilepsy.
Robinson R, Gardiner M.
Arch Dis Child. 2000 Feb; 82(2):121-5.
[Arch Dis Child. 2000]
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