De novo R853Q mutation of SCN2A gene and West syndrome

Acta Neurologica Belgica

Volumn 115, Issue 4, 2015, Pages 773-776

  Samanta, Debopam ^a   Ramakrishnaiah, Raghu ^b  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME ABERRATION; EVALUATION AND FOLLOW UP; GENE; GENE MUTATION; HEAD CIRCUMFERENCE; HUMAN; INFANTILE SPASM; LETTER; MALE; MICROARRAY ANALYSIS; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; SCN2A GENE; GENETICS; INFANT; MUTATION;

ARGININE; GLUTAMINE; SCN2A PROTEIN, HUMAN; SODIUM CHANNEL NAV1.2;

ARGININE; GLUTAMINE; HUMANS; INFANT; MALE; MUTATION; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; SPASMS, INFANTILE;

EID: 84947496226     PISSN: 03009009     EISSN: 22402993     Source Type: Journal    
DOI: 10.1007/s13760-015-0454-8     Document Type: Letter

References (3)

1. Samanta D, Ramakrishnaiah R, Willis E, Frye RE (2014) Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation. Acta Neurol Belg PMID: 25092550
2. Frost JD Jr, Hrachovy RA (2005) Pathogenesis of infantile spasms: a model based on developmental desynchronization. J Clin Neurophysiol 22(1):25–36
3. Nakamura K, Kato M, Osaka H et al (2013) Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 81(11):992–998