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Article

Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.

Seizure - 1 Oct 2008

Bahi-Buisson Nadia, El Sabbagh Sandra, Soufflet Christine, Escande Fabienne, Boddaert Nathalie, Valayannopoulos Vassili, Bellané-Chantelot Christine, Lascelles Karine, Dulac Olivier, Plouin Perrine, de Lonlay Pascale

Abstract excerpt

Activating mutations in glutamate dehydrogenase (GDH), de novo or dominantly inherited, are responsible for the hyperinsulinism/hyperammonemia (HI/HA) syndrome. Epilepsy has been frequently reported in association with mutations in GDH, but the epilepsy phenotype has not been clearly determined. Here, we describe a family with a dominantly inherited mutation in GDH. The mother, brother and both sisters had...

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Identifiers

PMID: 18321734
DOI: 10.1016/j.seizure.2008.01.005

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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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