Literature DB >> 25092550

Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation.

Debopam Samanta1, Raghu Ramakrishnaiah, Erin Willis, Richard E Frye.   

Abstract

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Year:  2014        PMID： 25092550     DOI： 10.1007/s13760-014-0344-5

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  4 in total

1.  Reduced axonal surface expression and phosphoinositide sensitivity in Kv7 channels disrupts their function to inhibit neuronal excitability in Kcnq2 epileptic encephalopathy.

Authors:  Eung Chang Kim; Jiaren Zhang; Weilun Pang; Shuwei Wang; Kwan Young Lee; John P Cavaretta; Jennifer Walters; Erik Procko; Nien-Pei Tsai; Hee Jung Chung
Journal:  Neurobiol Dis       Date:  2018-07-06       Impact factor: 5.996

2.  De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms.

Authors:  Haolin Duan; Jing Peng; Miriam Kessi; Fei Yin
Journal:  Child Neurol Open       Date:  2018-04-11

3.  Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors.

Authors:  Eung Chang Kim; Jaimin Patel; Jiaren Zhang; Heun Soh; Justin S Rhodes; Anastasios V Tzingounis; Hee Jung Chung
Journal:  Genes Brain Behav       Date:  2019-07-31       Impact factor: 3.449

4.  KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

Authors:  John J Millichap; Kristen L Park; Tammy Tsuchida; Bruria Ben-Zeev; Lionel Carmant; Robert Flamini; Nishtha Joshi; Paul M Levisohn; Eric Marsh; Srishti Nangia; Vinodh Narayanan; Xilma R Ortiz-Gonzalez; Marc C Patterson; Phillip L Pearl; Brenda Porter; Keri Ramsey; Emily L McGinnis; Maurizio Taglialatela; Molly Tracy; Baouyen Tran; Charu Venkatesan; Sarah Weckhuysen; Edward C Cooper
Journal:  Neurol Genet       Date:  2016-08-22
  4 in total

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