Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

European Journal of Paediatric Neurology

Volumn 14, Issue 5, 2010, Pages 456-459

  Nishri, Daniella ^a,b   Blumkin, Lubov ^a,b   Lev, Dorit ^a,b   Leshinsky Silver, Esther ^a,b,c   Abu Rashid, Mohammad ^a,b   Birch, Rachael ^c   Zuberi, Sameer M ^c   Lerman Sagie, Tally ^a,b  

^a WOLFSON MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Alpers Huttenlocher disease; Liver failure; Mitochondrial dysfunction; SCN1A; Severe myoclonic epilepsy of infancy; Valproic acid

Indexed keywords

ACETYLCYSTEINE; ALANINE AMINOTRANSFERASE; AMMONIA; BENZODIAZEPINE; CARNITINE; CLONAZEPAM; CREATININE; GLUTAMIC ACID; PARACETAMOL; PHENOBARBITAL; PHENYTOIN; SODIUM CHANNEL NAV1.1; VALINE; VALPROIC ACID;

ADRENAL CORTEX ATROPHY; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALPERS DISEASE; AMINO ACID SUBSTITUTION; AMMONIA BLOOD LEVEL; ARTICLE; BRAIN DAMAGE; BRAIN EDEMA; CASE REPORT; CEREBRAL BLINDNESS; CLONIC SEIZURE; COMPUTER ASSISTED TOMOGRAPHY; CREATININE BLOOD LEVEL; DISEASE SEVERITY; DISSEMINATED INTRAVASCULAR CLOTTING; DNA SEQUENCE; DRAVET SYNDROME; DRUG INTOXICATION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; EPILEPTIC STATE; FEBRILE CONVULSION; FEVER; FOCAL EPILEPSY; GENE; GENE MUTATION; GRAND MAL SEIZURE; HEPATIC COMA; HUMAN; HYPERAMMONEMIA; INFANT; KIDNEY FAILURE; LIVER BIOPSY; LIVER FAILURE; MALE; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DISORDER; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE GAMMA GENE 1; PRIORITY JOURNAL; QUADRIPLEGIA;

BRAIN INJURIES; HEPATIC ENCEPHALOPATHY; HUMANS; INFANT; MALE; MUTATION; NERVE TISSUE PROTEINS; SODIUM CHANNELS; STATUS EPILEPTICUS;

EID: 77956647246     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2010.03.002     Document Type: Article

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