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Article

Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation.

Pediatric neurology - 1 Jun 2011

Brackmann Florian A, Kiefer Alexander, Agaimy Abbas, Gencik Martin, Trollmann Regina

Abstract excerpt

Lafora disease is a fatal, autosomal recessive form of progressive myoclonus epilepsy. Patients characteristically exhibit myoclonic and tonic-clonic seizures and cognitive impairment, beginning in their second decade. Alterations in two genes were identified as the cause of the disease. Mutations in the NHL repeat containing 1 (NHLRC1) gene were described in association with a more benign clinical course and...

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Identifiers

PMID: 21555062
DOI: 10.1016/j.pediatrneurol.2011.01.012

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