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Article

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

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2010

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

Abstract excerpt

An 11 months old boy, developed liver failure after febrile status epilepticus while being treated with valproic acid for myoclonic epilepsy and recurrent partial and generalized seizures. The diagnosis of Alpers-Huttenlocher disease was considered. A muscle biopsy showed mitochondrial dysfunction. Mitochondrial DNA depletion was ruled out. Sequencing of the polymerase gamma gene (POLG1) did not detect any...

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PMID: 20392657
DOI: 10.1016/j.ejpn.2010.03.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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