Autosomal dominant SCN8A mutation with an unusually mild phenotype

European Journal of Paediatric Neurology

Volumn 20, Issue 5, 2016, Pages 761-765

  Anand, G ^a   Collett White, F ^a   Orsini, A ^a   Thomas, S ^a   Jayapal, S ^b   Trump, N ^c   Zaiwalla, Z ^a   Jayawant, S ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b ROYAL BERKSHIRE HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Benign familial infantile epilepsy; Focal epilepsy; Next generation sequence analysis; SCN8A; Voltage gated sodium channels

Indexed keywords

AMINO ACID; CARBAMAZEPINE; PHENYTOIN; SODIUM CHANNEL NAV1.6; VALPROIC ACID; SCN8A PROTEIN, HUMAN;

ADULT; APNEA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BENIGN CHILDHOOD EPILEPSY; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DRUG SUBSTITUTION; FOCAL EPILEPSY; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INFANTILE EPILEPSY; MALE; MOSAICISM; NEXT GENERATION SEQUENCING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TONIC CLONIC SEIZURE; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; INFANT; MUTATION;

ADULT; EPILEPSY, BENIGN NEONATAL; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MUTATION; NAV1.6 VOLTAGE-GATED SODIUM CHANNEL; PHENOTYPE;

EID: 84971282376     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2016.04.015     Document Type: Article

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