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

Summary 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 deter...

Full description

Saved in:
Bibliographic Details
Published in:Seizure (London, England) England), 2008-10, Vol.17 (7), p.658-664
Main Authors: 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
Format: Article
Language:English
Subjects:
Adult
Child
Child, Preschool
Electroencephalography
Epilepsies, Myoclonic - complications
Epilepsies, Myoclonic - genetics
Family Health
Female
Glutamate dehydrogenase
Glutamate Dehydrogenase - genetics
Humans
Hyperinsulinism/hyperammonemia syndrome
Infant
Magnetic Resonance Imaging - methods
Magnetic Resonance Spectroscopy - methods
Male
Mutation
Myoclonic absence
Neurology
Photosensitivity
Photosensitivity Disorders - etiology
Photosensitivity Disorders - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Summary 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 myoclonic absence seizures, but only the mother and one sister had the complete HI/HA pattern. For the two sisters with myoclonic absences, epilepsy started during the second year of life while the brother, it started at 6 years. All 3 children showed the same EEG pattern characterized by photosensitive generalized and irregular spike-wave discharges and runs of multiple spikes. The mother's EEG recordings were normal without photosensitivity. Magnetic resonance imaging (MRI) and spectroscopy (MRS) were normal. A direct effect of the GDH mutation, perhaps in combination with recurrent hypoglycemia and chronic hyperammonemia could provide a pathophysiological explanation for the epilepsy observed in this syndrome and these are discussed.
ISSN:1059-1311
1532-2688
DOI:10.1016/j.seizure.2008.01.005