Literature DB >> 12752457

Exploring new gene discoveries in idiopathic generalized epilepsy.

Jeffrey L Noebels1.   

Abstract

Most epilepsies are categorized under the umbrella term "idiopathic;" these seizure disorders lack a known cause. New genetic technologies are rapidly identifying specific genes responsible for idiopathic generalized epilepsies (IGEs) and are gradually taking the "I" out of "IGE." Ion channel (both voltage- and receptor-mediated) mutations have been linked to a variety of epilepsies considered idiopathic. Gene errors alter excitability in various ways, depending on the mutation, the regional network, and the stage of brain development. The majority of mutations prolong depolarization, favor repetitive firing, and alter neurotransmitter release or postsynaptic sensitivity at central synapses, but the reason for specific seizure types is unclear. Further analyses of these gene mutations and their effects on the developing brain are providing critical clues in the search to explain the origin of "idiopathic" epilepsy.

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Year:  2003        PMID: 12752457     DOI: 10.1046/j.1528-1157.44.s.2.4.x

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


  12 in total

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Journal:  Epilepsia       Date:  2012-05-21       Impact factor: 5.864

2.  Contrast gain control abnormalities in idiopathic generalized epilepsy.

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Journal:  Ann Neurol       Date:  2011-06-27       Impact factor: 10.422

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Review 4.  Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.

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Journal:  Mol Neurobiol       Date:  2013-03-14       Impact factor: 5.590

5.  Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current.

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

Authors:  Wendy K Chung; Minyoung Shin; Thomas C Jaramillo; Rudolph L Leibel; Charles A LeDuc; Stuart G Fischer; Efthia Tzilianos; Ayman A Gheith; Alan S Lewis; Dane M Chetkovich
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7.  Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.

Authors:  Christopher D Makinson; Brian S Tanaka; Tyra Lamar; Alan L Goldin; Andrew Escayg
Journal:  Neurobiol Dis       Date:  2014-04-02       Impact factor: 5.996

8.  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

9.  The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.

Authors:  Jing-Qiong Kang; Wangzhen Shen; Chengwen Zhou; Dong Xu; Robert L Macdonald
Journal:  Nat Neurosci       Date:  2015-05-25       Impact factor: 24.884

10.  PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

Authors:  Lily Paemka; Vinit B Mahajan; Jessica M Skeie; Levi P Sowers; Salleh N Ehaideb; Pedro Gonzalez-Alegre; Toshikuni Sasaoka; Hirotaka Tao; Asuka Miyagi; Naoto Ueno; Keizo Takao; Tsuyoshi Miyakawa; Shu Wu; Benjamin W Darbro; Polly J Ferguson; Andrew A Pieper; Jeremiah K Britt; John A Wemmie; Danielle S Rudd; Thomas Wassink; Hatem El-Shanti; Heather C Mefford; Gemma L Carvill; J Robert Manak; Alexander G Bassuk
Journal:  PLoS One       Date:  2013-12-03       Impact factor: 3.240

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