Lack of pathogenic mutations in six patients with MMPSI-Reference-Cited by-同舟云学术

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Lack of pathogenic mutations in six patients with MMPSI

Published:2014-02 Issue:2 Volume:108 Page:340-344
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

De Filippo Maria Rosaria^ORCID,Rizzo Francesca,Marchese Giovanna,Giurato Giorgio^ORCID,Nassa Giovanni^ORCID,Ravo Maria,Tarallo Roberta,Pironti Erica,Vecchi Marilena^ORCID,Crichiutti Giovanni,Capizzi Giorgio,Verrotti Alberto,Weisz Alessandro,Coppola Giangennaro

Funder

Italian Ministry for Education, University and Research

Italian Association for Cancer Research

Fondazione Umberto Veronesi

University of Salerno

EU COST Action ‘SEQAHEAD: Next Generation Sequencing Data Analysis Network’

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference15 articles.

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

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

3. De novo SCN1A mutations in migrating partial seizures of infancy;Carranza Rojo;Neurology,2011

4. Migrating partial seizures in infancy: a malignant disorder with developmental arrest;Coppola;Epilepsia,1995

5. Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy;Coppola;Brain Dev.,2006

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2. Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures;Scientific Reports;2022-06-17

3. KCNT1-Related Epilepsy: A Review;Journal of Pediatric Neurology;2021-05-21

4. VU0606170, a Selective Slack Channels Inhibitor, Decreases Calcium Oscillations in Cultured Cortical Neurons;ACS Chemical Neuroscience;2020-10-14

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