Document Detail

Adult-onset autosomal dominant myoclonic epilepsy: report of a family with an overlooked epileptic syndrome.
MedLine Citation:
PMID:  17174115     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Myoclonic epilepsy is a common epileptic syndrome with high genetic contribution. We described a pedigree in which 10 individuals presented with a non-progressive, adult-onset myoclonic epilepsy.
MATERIALS AND METHODS: The pedigree was constructed and analyzed. Six affected members were studied with clinical grounds, mental status, neurophysiology, video-electroencephalographic (EEG), brain magnetic resonance imaging (MRI) and mutational analysis of GABRA1 (GABRA1A, which endoces the alpha1 subunit of the gamma-aminobutyric acid receptor subtype A). Clinical and EEG data were collected from six unaffected members.
RESULTS: Autosomal dominant hereditary was shown. The age of seizure onset was approximately 40. All the individuals had myoclonic seizures and a normal cognitive level. Bilateral symmetric jerks of the shoulders, arms or legs featured the myoclonic seizure. Ictally, the consciousness was not affected. The ictal EEG demonstrated bilateral spikes-and-waves. The occurrence of myoclonic seizures was not associated with sleepiness. Rare generalized tonic-clonic seizures occurred in two individuals. No absence or accompanying involuntary movements were observed. A lower dose of valproic acid (200-500 mg/D) (clonazepam 0.5 mg/D in a patient) was required to stop the myoclonic seizures.
CONCLUSIONS: The clinical features of late adult-onset autosomal dominant myoclonic epilepsy are similar to juvenile myoclonic epilepsy (JME), which is a common generalized epileptic syndrome with a significant hereditary component. But the age of onset, rare association of other seizure patterns, and non-relation of seizure onset to sleepiness suggest that this may be a distinct familial epileptic syndrome different from recognized familial myoclonic epilepsies.
Yue-Loong Hsin; Min-Fei Chuang; Woei-Cherng Shyu; Chih-Yuan Lin; Yen-Ho Chen; Tomor Harnod
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Publication Detail:
Type:  Journal Article     Date:  2006-12-14
Journal Detail:
Title:  Seizure     Volume:  16     ISSN:  1059-1311     ISO Abbreviation:  Seizure     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-02-13     Completed Date:  2007-06-07     Revised Date:  2014-10-21    
Medline Journal Info:
Nlm Unique ID:  9306979     Medline TA:  Seizure     Country:  England    
Other Details:
Languages:  eng     Pagination:  160-5     Citation Subset:  IM    
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MeSH Terms
Age of Onset
Anticonvulsants / administration & dosage
Epilepsies, Myoclonic / drug therapy,  genetics*
Genetic Diseases, Inborn / diagnosis*
Magnetic Resonance Imaging
Middle Aged
Receptors, GABA-A / genetics*
Valproic Acid / administration & dosage
Video Recording
Reg. No./Substance:
0/Anticonvulsants; 0/GABRA1 protein, human; 0/Receptors, GABA-A; 614OI1Z5WI/Valproic Acid

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