Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A

Seizure

Volumn 18, Issue 7, 2009, Pages 492-497

  Mahoney, Krista ^a   Moore, Susan J ^a   Buckley, David ^a   Alam, Muhammed ^a   Parfrey, Patrick ^a   Penney, Sharon ^a   Merner, Nancy ^a   Hodgkinson, Kathy ^a   Young, Terry Lynn ^a  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

Epilepsy; GEFS+; Mutation; Neuropsychiatric; SCN1A

Indexed keywords

ANTICONVULSIVE AGENT; PROTEIN SCN1A; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL;

AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEBRILE CONVULSION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; INFANT; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SOCIAL PHOBIA;

ADULT; ANXIETY; ATAXIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSY, GENERALIZED; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PHENOTYPE; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 68049142992     PISSN: 10591311     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.seizure.2009.04.009     Document Type: Article

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