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Paper Details

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Nat Genet
189
2015
Epileptic encephalopathies, KCNA2, KV1, ataxia, delayed speech, encephalopathy, epilepsies, epileptic, epileptic encephalopathy, human, hyperexcitability, intellectual disability, multifocal epileptiform discharges, neurodevelopmental disorders, neurodevelopmental features, neurons, patients, potassium, potassium channel KV1
Author NameAffiliation
Roland KrauseUniversity of Luxembourg
Thomas Dorn
G??nter Kr??mer
Maja SteinlinUniversity Children's Hospital Inselspital
Michael A GonzalezHussman Institute for Human Genomics, University of Miami
Stephan Z??chnerHussman Institute for Human Genomics, University of Miami
Aarno PalotieInstitute for Molecular Medicine Finland, University of Helsinki
Aarno PalotieMassachusetts General Hospital
Aarno PalotieWellcome Trust Sanger Institute
Ingo HelbigChristian-Albrechts-University of Kiel
Ingo HelbigChildren's Hospital of Philadelphia
Saskia BiskupCenter for Genomics and Transcriptomics (CeGaT) GmbH
Sanjay M SisodiyaUniversity College London Institute of Neurology
Sanjay M Sisodiya
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