Relationship of electrophysiological dysfunction and clinical severity in SCN2A -related epilepsies-Reference-Cited by-同舟云学术

Relationship of electrophysiological dysfunction and clinical severity in SCN2A -related epilepsies

Published:2018-09-13 Issue:12 Volume:39 Page:1942-1956
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lauxmann Stephan¹^ORCID,Verbeek Nienke E.²,Liu Yuanyuan¹,Zaichuk Mariana¹,Müller Stephan¹,Lemke Johannes R.³,van Kempen Marjan J.A.²,Lerche Holger¹,Hedrich Ulrike B.S.¹

Affiliation:

1. Department of Neurology and Epileptology; Hertie Institute for Clinical Brain Research; University of Tuebingen; Tuebingen Germany

2. Department of Genetics; University Medical Centre Utrecht; Utrecht the Netherlands

3. Institute of Human Genetics; University of Leipzig Hospitals and Clinics; Leipzig Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23619/fullpdf

Reference38 articles.

1. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities;Baasch;Epilepsia,2014

2. Opposing effects on NaV1.2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures;Ben-Shalom;Biological Psychiatry,2017

3. Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy;Berkovic;Annals of Neurology,2004

4. Genotype phenotype associations across the voltage-gated sodium channel family;Brunklaus;Journals of Medical Genetics,2014

5. Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation;Carroll;Psychiatric Genetics,2016

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2. Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of fourSCN2Avariants;2024-02-21

3. Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties;Journal of General Physiology;2023-08-14

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