Literature DB >> 15130686

Genes and mutations in human idiopathic epilepsy.

Ortrud K Steinlein1.   

Abstract

Thirteen genes have already been identified in human idiopathic epilepsies since 1995, but they account only for a minority of all epilepsy cases. Most of these genes are associated with rare monogenic epilepsy syndromes, but some of them contribute to the common epilepsy subtypes. The questions remains to be answered how many more epilepsy genes exist in brain. Idiopathic epilepsies are common neurological disorders, and it can therefore be expected that the total number of genes associated with an increased seizure susceptibility is much higher than 13. Most of the known genes code for either voltage-gated or ligand gated ion channels, but recently two epilepsy genes have been found which do not fit into the concept of epilepsies as channelopathies. It can therefore be suspected that more than one pathogenetic concept exists in epileptogenesis.

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Year:  2004        PMID: 15130686     DOI: 10.1016/S0387-7604(03)00149-9

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  12 in total

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4.  Dorsoventral differences in Kv7/M-current and its impact on resonance, temporal summation and excitability in rat hippocampal pyramidal cells.

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5.  Epilepsy genetics in Africa: challenges and future perspectives.

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8.  Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2.

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9.  Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.

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Journal:  Neurobiol Dis       Date:  2014-04-02       Impact factor: 5.996

10.  Candidate genes for idiopathic epilepsy in four dog breeds.

Authors:  Kari J Ekenstedt; Edward E Patterson; Katie M Minor; James R Mickelson
Journal:  BMC Genet       Date:  2011-04-25       Impact factor: 2.797

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