An inherited nonsense R1645X mutation in neuronal sodium channel 1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy

Neuropediatrics

Volumn 40, Issue 2, 2009, Pages 82-84

  Gokben S ^a   Berdeli, A ^a   Serdarolu, G ^a  

^a EGE UNIVERSITY   (Turkey)

Author keywords

inherited mutation; nonsense; severe myoclonic epilepsy of infancy; sodium channel alpha 1 subunit

Indexed keywords

CLONAZEPAM; ETIRACETAM; PHENOBARBITAL; SODIUM CHANNEL NAV1.1; TOPIRAMATE; VALPROIC ACID;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; HUMAN; MYOCLONUS EPILEPSY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ARGININE; CARRIER PROTEINS; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FAMILY HEALTH; FEMALE; HUMANS; TURKEY;

EID: 77954774753     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0029-1234083     Document Type: Article

References (12)

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