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

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

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

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 SSADH were obtained on the patient and family members. RESULTS: EEG recordings yielded generalized 3-4 Hz spike-wave paroxysms and trains of multiple spikes in the heterozygous patient, and photosensitivity in the heterozygous patient and parent as well as in the sibling with homozygous deficiency. The heterozygous patient and parents did not manifest 4-OH-butyric aciduria but SSADH levels were low and a splice site mutation of the SSADH gene was identified in each. CONCLUSIONS: Heterozygosity for SSADH deficiency may be associated with an epilepsy syndrome characterized by absence and myoclonic seizures, photoparoxysmal EEG and generalized epileptiform discharges SIGNIFICANCE: Heterozygous SSADH deficiency may be suspected, given an appropriate family history in the setting of an apparently idiopathic generalized epilepsy. Pathogenic explanations may relate to regional elevations in GABA or GHB concentrations.

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

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

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Clinical neurophysiology : official journal of the

VOLUME: 115

Page Numbers: 1417-22

Journal Abbreviation: Clin Neurophysiol

ISSN: 1388-2457

DAY: 10

MONTH: Jun

YEAR: 2004

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

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LANGUAGE: eng

NlmUniqueID: 100883319

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

KEYWORDS: Succinate-Semialdehyde Dehydrogenase

MESH TERMS: urine

Chemical & Substance for Abstract: Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Information

Substance Name: Succinate-Semialdehyde Dehydrogenase

Registry Number: EC 1.2.1.24

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

AFFILIATION: Department of Neurology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.

Country: Netherlands

AGENCY: United States NINDS

GRANT: NS 40270

ACRONYM: NS

MEDLINETA: Clin Neurophysiol

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