SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability

Epilepsia

Volumn 56, Issue 8, 2015, Pages 1319-1320

  Fung, Lai Wah Eva ^a   Kwok, Sui Lam Jamie ^a   Tsui, Kwok Wing Stephen ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; ETIRACETAM; FOLINIC ACID; HARKOSERIDE; LAMOTRIGINE; PHENOBARBITAL; PYRIDOXAL 5 PHOSPHATE; RUFINAMIDE; SODIUM CHANNEL BLOCKING AGENT; SODIUM CHANNEL NAV1.6; TOPIRAMATE; VALPROIC ACID;

ABSENCE; ANTICONVULSANT THERAPY; ATAXIA; BENIGN CHILDHOOD EPILEPSY; CHILD; CHINESE; DISABILITY; DRUG TREATMENT FAILURE; DYSARTHRIA; EEG ABNORMALITY; FOCAL EPILEPSY; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; KETOGENIC DIET; LETTER; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REFLEX DISORDER; SUDDEN DEATH; TONIC CLONIC SEIZURE; EPILEPSY; FEMALE; GENETICS; MALE; MUTATION;

EPILEPSY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; NAV1.6 VOLTAGE-GATED SODIUM CHANNEL;

EID: 84938569030     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13016     Document Type: Letter

References (4)

1. Kong WJ, Zhang YJ, Gao Y, et al., SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. Epilepsia 2015; 56: 431-438.
2. Choi Y, Sims GE, Murphy S, et al., Predicting the functional effect of amino acid substitutions and indels. PLoS ONE 2012; 7: e46688.
3. Larsen J, Carvill GL, Gardella E, et al., The phenotypic spectrum of SCN8A encephalopathy. Neurology 2015; 84: 1-10.
4. Ohba C, Kato M, Takahashi S, et al., Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilpsia 2014; 55: 994-1000.