De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Human Mutation

Volumn 21, Issue 6, 2003, Pages 615-621

  Claes, Lieve ^a   Ceulemans, Berten ^a,b,c   Audenaert, Dominique ^a   Smets, Katrien ^a   Löfgren, Ann ^a   Del Favero, Jurgen ^a   Ala Mello, Sirpa ^d   Basel Vanagaite, Lina ^g   Plecko, Barbara ^e   Raskin, Salmo ^f   Thiry, Paul ^g   Wolf, Nicole I ^h   Van Broeckhoven, Christine ^a   De Jonghe, Peter ^a,b,i  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c Epilepsy Center for Children and Youth   (Belgium)

^d Vaestoliitto   (Finland)

^e UNIVERSITY HOSPITAL GRAZ   (Austria)

^f Laboratory Genetika   (Brazil)

^g Dienstencentrum St Oda ^*

^h UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

ⁱ UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Dravet syndrome; Epilepsy; GEFS+; Generalized epilepsy with febrile seizures plus; SCN1A; Severe myoclonic epilepsy of infancy; SMEI

Indexed keywords

SODIUM CHANNEL;

ARTICLE; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE SEVERITY; DRAVET SYNDROME; EPILEPSY; FEBRILE CONVULSION; GENE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANT; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; ONSET AGE; PATERNITY TEST; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCN1A GENE;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; EXONS; FEMALE; HUMANS; INFANT; INTRONS; MALE; MUTATION; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; SODIUM CHANNELS;

EID: 0038240713     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10217     Document Type: Article

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