SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures

Neuropediatrics

Volumn 36, Issue 3, 2005, Pages 210-213

  Ebach, K ^a   Joos, H ^a   Doose, H ^b   Stephani, U ^b   Kurlemann, G ^c   Fiedler, B ^c   Hahn, A ^a   Hauser, E ^d   Hundt, K ^c   Holthausen, H ^c   Muller U ^a   Neubauer, B A ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b Norddeutsches Epilepsiezentrum   (Germany)

^c Department of Neuropediatrics ^*  (Germany)

^d Thermenklinikum Mödling   (Austria)

Author keywords

Early childhood; Infancy; Myoclonic epilepsy; SCN1A gene

Indexed keywords

ARTICLE; CHILDHOOD; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GENERALIZED EPILEPSY; HUMAN; IDIOPATHIC DISEASE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOCLONIC ASTATIC EPILEPSY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SCN1A GENE; STOP CODON;

CHILD; CHILD DEVELOPMENT; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; EPILEPSY, TONIC-CLONIC; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; NERVE TISSUE PROTEINS; SODIUM CHANNELS;

EID: 23644433461     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-865607     Document Type: Article

References (13)

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