Literature DB >> 7620586

Genetics of the epilepsies.

F Elmslie1, M Gardiner.   

Abstract

The epilepsy gene map has been refined and extended with new information concerning benign familial neonatal convulsions, benign familial infantile convulsions, Unverricht-Lundborg disease, epilepsy with progressive mental retardation and juvenile myoclonic epilepsy. Understanding of the molecular basis of paroxysmal disorders affecting the central nervous system has been revolutionalized with the identification of mutations in genes for the neurotransmitter receptors, GLRA1 and CHRNA4, and a voltage-gated potassium channel, KCNA1, as causes of inherited neurological disease.

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Year:  1995        PMID: 7620586     DOI: 10.1097/00019052-199504000-00007

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN: 1350-7540            Impact factor:   5.710


  5 in total

Review 1.  The relevance of individual genetic background and its role in animal models of epilepsy.

Authors:  P Elyse Schauwecker
Journal:  Epilepsy Res       Date:  2011-10-15       Impact factor: 3.045

Review 2.  The neuronal nicotinic acetylcholine receptor in some hereditary epilepsies.

Authors:  F J Barrantes; E Aztiria; M B Rauschemberger; A Vasconsuelo
Journal:  Neurochem Res       Date:  2000-05       Impact factor: 3.996

Review 3.  Inborn errors of neurotransmitter receptors.

Authors:  R Surtees
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

4.  Hippocampal Transcriptomic Profiles: Subfield Vulnerability to Age and Cognitive Impairment.

Authors:  Lara Ianov; Matt De Both; Monica K Chawla; Asha Rani; Andrew J Kennedy; Ignazio Piras; Jeremy J Day; Ashley Siniard; Ashok Kumar; J David Sweatt; Carol A Barnes; Matthew J Huentelman; Thomas C Foster
Journal:  Front Aging Neurosci       Date:  2017-12-08       Impact factor: 5.750

5.  Novel and de novo mutations in pediatric refractory epilepsy.

Authors:  Jing Liu; Lili Tong; Shuangshuang Song; Yue Niu; Jun Li; Xiu Wu; Jie Zhang; Clement C Zai; Fang Luo; Jian Wu; Haiyin Li; Albert H C Wong; Ruopeng Sun; Fang Liu; Baomin Li
Journal:  Mol Brain       Date:  2018-09-05       Impact factor: 4.041

  5 in total

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