Literature DB >> 3113931

Genetic considerations in childhood epilepsy.

T D Bird.   

Abstract

This report reviews various lines of evidence demonstrating important genetic influences in the epilepsies, with special emphasis on childhood epilepsy. Five pertinent topics are discussed: (a) examples of dominant, recessive, and X-linked single-gene disorders known to be associated with epilepsy, (b) examples of gross chromosomal aberrations associated with epilepsy, (c) discussion of multifactorial and polygenic inheritance and issues of genetic heterogeneity with specific reference to idiopathic generalized epilepsy, febrile seizures, and infantile spasms, (d) brief review of experimental clues to possible pathogenetic mechanisms underlying genetic forms of epilepsy, and (e) an overview of strategies for applying genetic linkage analysis to hereditary epileptic disorders.

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Year:  1987        PMID: 3113931     DOI: 10.1111/j.1528-1157.1987.tb05761.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   5.864


  3 in total

1.  A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

Authors:  T Sugawara; Y Tsurubuchi; K L Agarwala; M Ito; G Fukuma; E Mazaki-Miyazaki; H Nagafuji; M Noda; K Imoto; K Wada; A Mitsudome; S Kaneko; M Montal; K Nagata; S Hirose; K Yamakawa
Journal:  Proc Natl Acad Sci U S A       Date:  2001-05-22       Impact factor: 11.205

2.  Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.

Authors:  Wen Zheng; Jie Zhang; Xiong Deng; Jingjing Xiao; Lamei Yuan; Yan Yang; Liping Guan; Zhi Song; Zhijian Yang; Hao Deng
Journal:  Mol Neurobiol       Date:  2014-12-15       Impact factor: 5.590

3.  Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

Authors:  A Hirvasniemi; H Lang; A E Lehesjoki; J Leisti
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

  3 in total

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