Dravet syndrome with an exceptionally good seizure outcome in two adolescents

Epileptic Disorders

Volumn 13, Issue 3, 2011, Pages 340-344

  Kobayashi, Katsuhiro ^a   Ohmori, Iori ^b   Ouchida, Mamoru ^b   Ohtsuka, Yoko ^a  

^a OKAYAMA UNIVERSITY HOSPITAL   (Japan)

^b OKAYAMA UNIVERSITY   (Japan)

Author keywords

Adolescence; Convulsive status epilepticus; Dravet syndrome; Prognosis; SCN1A mutation; Severe myoclonic epilepsy in infancy

Indexed keywords

ACETAZOLAMIDE; CARBAMAZEPINE; DIAZEPAM; POTASSIUM BROMIDE; VALPROIC ACID; ZONISAMIDE; ANTICONVULSIVE AGENT; NERVE PROTEIN; SODIUM CHANNEL; SODIUM CHANNEL, VOLTAGE GATED, TYPE I, ALPHA PROTEIN; SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, ALPHA PROTEIN;

ADOLESCENT; CASE REPORT; CLINICAL FEATURE; DISEASE DURATION; DRUG ERUPTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; EPILEPTIC STATE; FEBRILE CONVULSION; FEMALE; FRAMESHIFT MUTATION; GENE; GENETIC ANALYSIS; GRAND MAL SEIZURE; HUMAN; MALE; MISSENSE MUTATION; MYOCLONUS SEIZURE; NONCONVULSIVE STATUS EPILEPTICUS; PREMATURITY; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SCN1A GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; WECHSLER INTELLIGENCE SCALE; ARTICLE; DRUG COMBINATION; ELECTROENCEPHALOGRAPHY; GENERALIZED EPILEPSY; GENETICS; INTELLECTUAL IMPAIRMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PSYCHOLOGICAL ASPECT; SYNDROME; TREATMENT OUTCOME;

ADOLESCENT; ANTICONVULSANTS; CHILD, PRESCHOOL; DRUG THERAPY, COMBINATION; ELECTROENCEPHALOGRAPHY; EPILEPSY, GENERALIZED; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; SEIZURES, FEBRILE; SODIUM CHANNELS; SYNDROME; TREATMENT OUTCOME; WECHSLER SCALES;

EID: 84856385076     PISSN: 12949361     EISSN: 19506945     Source Type: Journal    
DOI: 10.1684/epd.2011.0453     Document Type: Review

References (9)

1. Akiyama M, Kobayashi K, Yoshinaga H, Ohtsuka Y. A longterm follow-up study of Dravet syndrome up to adulthood. Epilepsia 2010;51:1043-52.
2. Buoni S, Orrico A, Galli L, et al. SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. Neurology 2006;66:606-7. (Pubitemid 43739902)
3. Chiron C, Dulac O. The pharmacologic treatment of Dravet syndrome. Epilepsia 2011;52:72-5.
4. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severemyoclonic epilepsy of infancy. Am J Hum Genet 2001;68:1327-32. (Pubitemid 32510608)
5. Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy: Dravet syndrome. In: Delgado-Escueta V, Guerrini R, Medina MT, Genton P, Bureau M, Dravet C. Advances in Neurology, vol 95, Myoclonic Epilepsies. Philadelphia: Lippincott Williams & Wilkins, 2005:71-102.
6. Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007;130:843-52. (Pubitemid 46410748)
7. Hattori J, Ouchida M, Ono J, et al. Ascreening test for the prediction of Dravet syndrome before one year of age. Epilepsia 2008;49:626-33. (Pubitemid 351661052)
8. Singh R, Andermann E, Whitehouse WP, et al. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 2001;42:837-44. (Pubitemid 32783090)
9. Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology 2011;76:594-600.