Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy-Reference-Cited by-同舟云学术

Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy

Published:2016-04 Issue: Volume:72 Page:54-63
ISSN:1044-7431
Container-title:Molecular and Cellular Neuroscience
language:en
Short-container-title:Molecular and Cellular Neuroscience

Author:

Rizzo Francesca,Ambrosino Paolo,Guacci Anna,Chetta Massimiliano,Marchese Giovanna,Rocco Teresa,Soldovieri Maria Virginia,Manocchio Laura,Mosca Ilaria,Casara Gianluca,Vecchi Marilena,Taglialatela Maurizio,Coppola Giangennaro,Weisz Alessandro^ORCID

Funder

Italian Ministry for Education, University and Research

National Research Council of Italy (Flagship Project InterOmics)

University of Salerno

Fondazione ‘Umberto Veronesi’, Telethon

Genomix4Life Srl

Publisher

Elsevier BV

Subject

Cell Biology,Cellular and Molecular Neuroscience,Molecular Biology

Reference46 articles.

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3. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy;Barcia;Nat. Genet.,2012

4. Targeted treatment of migrating partial seizures of infancy with quinidine;Bearden;Ann. Neurol.,2014

5. Duplication 16p11.2 in a child with infantile seizure disorder;Bedoyan;Am. J. Med. Genet. A,2010

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