A novel SCN2A mutation in family with benign familial infantile seizures

Epilepsia

Volumn 47, Issue 1, 2006, Pages 218-220

  Striano, Pasquale ^a   Bordo, Laura ^a   Lispi, Maria Luisa ^b   Specchio, Nicola ^b   Minetti, Carlo ^a   Vigevano, Federico ^b   Zara, Federico ^a,c  

^a UNIVERSITY OF GENOA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

BFISs; Infantile seizures; SCN2A

Indexed keywords

ADENINE; ANTICONVULSIVE AGENT; SODIUM CHANNEL; THYMINE; VOLTAGE GATED SODIUM CHANNEL;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; COMPARATIVE STUDY; FEBRILE CONVULSION; FOCAL EPILEPSY; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GRAND MAL SEIZURE; HETEROZYGOSITY; HUMAN; INFANTILE SPASM; MALE; MOLECULAR EVOLUTION; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; TREATMENT OUTCOME; VOLTAGE GATED SODIUM CHANNEL ALPHA 2 SUBUNIT GENE;

AGE OF ONSET; ANTICONVULSANTS; CHILD; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 19; CHROMOSOMES, HUMAN, PAIR 2; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, PARTIAL; EPILEPSY, BENIGN NEONATAL; FAMILY; HETEROZYGOTE DETECTION; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PHENOTYPE; SODIUM CHANNELS; SPASMS, INFANTILE; TREATMENT OUTCOME;

EID: 33645017927     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2006.00392.x     Document Type: Article

References (8)

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