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Article

Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Jun 2004

Dervent A, Gibson K M, Pearl P L, Salomons G S, Jakobs C, Yalcinkaya C

Abstract excerpt

OBJECTIVE: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a neurometabolic disorder characterized by excessive GABA levels and seizures. There has been no clinical phenotype described to date with heterozygosity for SSADH deficiency. METHODS: A patient heterozygous for SSADH deficiency presented with absence and myoclonic seizures. EEG monitoring and enzymatic, metabolic, and molecular studies for...

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Identifiers

PMID: 15134710
DOI: 10.1016/j.clinph.2004.01.002

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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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