Acute encephalopathy with a truncation mutation in the SCN1A gene: A case report

Epilepsia

Volumn 51, Issue 9, 2010, Pages 1886-1888

  Takayanagi, Masaru ^a   Haginoya, Kazuhiro ^b   Umehara, Naoki ^a   Kitamura, Taro ^a   Numata, Yurika ^b   Wakusawa, Keisuke ^b   Hino Fukuyo, Naomi ^c   Mazaki, Emi ^d   Yamakawa, Kazuhiro ^d   Ohura, Toshihiro ^a   Ohtake, Masatoshi ^a  

^a SENDAI CITY HOSPITAL   (Japan)

^b Takuto Rehab Center for Children   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

Author keywords

Diffusion weighted imaging; Frameshift mutation; Status epilepticus; Voltage gated sodium channel

Indexed keywords

DIAZEPAM; MIDAZOLAM; PHENOBARBITAL; PHENYTOIN; POTASSIUM BROMIDE; SODIUM CHANNEL NAV1.1; THIOPENTAL; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE; NERVE PROTEIN; SCN1A PROTEIN, HUMAN; SODIUM CHANNEL;

ACUTE BRAIN DISEASE; ARTICLE; BATH; BODY TEMPERATURE; BRAIN ATROPHY; BRAIN CORTEX; CASE REPORT; CHILD; CONSCIOUSNESS DISORDER; CONTINUOUS INFUSION; DIFFUSION WEIGHTED IMAGING; DRUG BLOOD LEVEL; DRUG MEGADOSE; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; FEBRILE CONVULSION; FEMALE; FRAMESHIFT MUTATION; HUMAN; INFANCY; MENTAL DEFICIENCY; MYOCLONUS EPILEPSY; NASOGASTRIC TUBE; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; SEQUENCE ANALYSIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; VACCINATION; WHITE MATTER; ACUTE DISEASE; BRAIN DISEASE; BRAIN EDEMA; ENCEPHALOMYELITIS; GENETIC PREDISPOSITION; GENETICS; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; SEIZURE; SYNDROME;

ACUTE DISEASE; BRAIN DISEASES; BRAIN EDEMA; EPILEPSIES, MYOCLONIC; FEMALE; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; LEUKOENCEPHALITIS, ACUTE HEMORRHAGIC; MAGNETIC RESONANCE IMAGING; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; NERVE TISSUE PROTEINS; SEIZURES; SODIUM CHANNELS; SYNDROME;

EID: 77956337137     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2010.02600.x     Document Type: Article

References (13)

1. Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE 2006) De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol 5 : 488 492.
2. Chen Y, Mizuguchi H, Yao D, Ide M, Kuroda Y, Shigematsu Y, Yamaguchi S, Yamaguchi M, Kinoshita M, Kido H 2005) Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. FEBS Lett 579 : 2040 2044.
3. Gambardella A, Marini C 2009) Clinical spectrum of SCN1A mutations. Epilepsia 50 (suppl 5 20 23.
4. Hidaka F, Matsuo S, Muta T, Takeshige K, Mizukami T, Nunoi H 2006) A missense mutation of the toll-like receptor 3 gene in a patient with influenza-associated encephalopathy. Clin Immunol 119 : 188 194.
5. Lossin C 2009) A catalog of SCN1A variants. Brain Dev 31 : 114 130.
6. Mizuguchi M, Yamanouchi H, Ichiyama T, Shiomi M 2007) Acute encephalopathy associated with influenza and other viral infections. Acta Neurol Scand Suppl 186 : 45 56.
7. Neilson DE, Feiler HS, Wilhelmsen KC, Lynn A, Eiben RM, Kerr DS, Warman ML 2004) Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13. Ann Neurol 55 : 291 294.
8. Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M 2001) Severe myoclonic epilepsy in infants - a review based on the Tokyo Women's Medical University series of 84 cases. Brain Dev 23 : 736 748.
9. Takanashi J 2009) Two newly proposed infectious encephalitis/ encephalopathy syndromes. Brain Dev 31 : 521 528.
10. Tanabe T, Awaya Y, Matsuishi T, Iyoda K, Nagai T, Kurihara M, Yamamoto K, Minagawa K, Maekawa K 2008) Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome) - a nationwide questionnaire survey in Japan. Brain Dev 30 : 629 635.
11. Toovey S 2008) Influenza-associated central nervous system dysfunction: a literature review. Travel Med Infect Dis 6 : 114 124.
12. Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH 2003) Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry 8 : 186 194.
13. Yamakawa K 2009) Molecular basis of severe myoclonic epilepsy in infancy. Brain Dev 31 : 401 404.