Literature DB >> 25193600

Normokalemic periodic paralysis with involuntary movements and generalized epilepsy associated with two novel mutations in SCN4A gene.

Lingling Cao1, Xiaobin Li2, Daojun Hong3.   

Abstract

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Year:  2014        PMID： 25193600     DOI： 10.1016/j.seizure.2014.08.005

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.184


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  3 in total

1.  SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

Authors:  Alberto Bergareche; Marcin Bednarz; Elena Sánchez; Catharine E Krebs; Javier Ruiz-Martinez; Patricia De La Riva; Vladimir Makarov; Ana Gorostidi; Karin Jurkat-Rott; Jose Felix Marti-Masso; Coro Paisán-Ruiz
Journal:  Hum Mol Genet       Date:  2015-10-01       Impact factor: 6.150

2.  Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.

Authors:  Monica Coll; Catarina Allegue; Sara Partemi; Jesus Mates; Bernat Del Olmo; Oscar Campuzano; Vincenzo Pascali; Anna Iglesias; Pasquale Striano; Antonio Oliva; Ramon Brugada
Journal:  Int J Legal Med       Date:  2015-09-30       Impact factor: 2.686

Review 3.  Predicting the impact of sodium channel mutations in human brain disease.

Authors:  Jeffrey L Noebels
Journal:  Epilepsia       Date:  2019-12       Impact factor: 5.864
  3 in total

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