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De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
The American Journal of Human Genetics · 2001 · Vol. 68(6) · pp. 1327–1332
Lieve Claes(University of Antwerp)Jurgen Del‐Favero(University of Antwerp)Berten Ceulemans(Antwerp University Hospital)Lieven LagaeChristine Van Broeckhoven(University of Antwerp)Peter De Jonghe✉(University of Antwerp)
Epilepsy research and treatmentGenetics and Neurodevelopmental DisordersIon Transport and Channel RegulationMyoclonic epilepsyMissense mutationEpilepsyFrameshift mutationMedicineDravet syndromeGeneralized epilepsyEpilepsy syndromesPediatricsMutation
MeSH terms
Amino Acid SequenceBase SequenceBelgiumChildChild, PreschoolDNA Mutational AnalysisEpilepsies, MyoclonicExonsFemaleHumansInfantIntronsMaleMolecular Sequence DataMutation
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References
Proposal for Revised Classification of Epilepsies and Epileptic Syndromes
Epilepsia · 1989 · 5,353 citations
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