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- W2419665478 abstract "OBJECTIVE: To report an Unverricht Lundborg disease (ULD) Tunisian family with a juvenile myoclonic epilepsy (JME) phenotype. BACKGROUND: ULD is an autosomal recessive disease, frequent in Mediterranean region. It is characterized by an intra and inter familial variability. Functional disability is mainly due to action myoclonus. At onset, ULD can be misdiagnosed with JME. DESIGN/METHODS: The family was identified through a proband with generalized tonic clonic seizures (GTCS) and myoclonus. Twenty at-risk members were examined. Simplified unified myoclonus rating scale (UMRS) evaluated the severity of the myoclonus. EEG was performed in 3 patients. Dodecamer expansion in cystatin B gene was searched by deamination/PCR assay. The transcription level of CSTB, cathepsin B and cystatin C was measured and compared to a family with classical ULD and four affected members. RESULTS: The family included six affected members. The mean duration of evolution was 22.4 years. All had minor morning myoclonic (UMRS score: 1/5) and GTCS with no action myoclonus and no cognitive impairment. Peri oral reflex myoclonus were present in all, they were correlated to EEG abnormalities in two. Seizures and myoclonus were easily controlled by low doses of valproate and clonazepam, and never treated in one patient. All these characteristics led in the beginning to the misdiagnosis of JME. Nevertheless a homozygous dodecamer expansion in the CSTB gene was identified in all patients. No correlation was observed between CSTB, cathepsin B and cystatin C transcription levels and the severity of the disease within the family and compared to the family with classical phenotype. CONCLUSIONS: The phenotype in ULD can be closer to JME than to progressive myoclonic epilepsy (PME) after long disease evolution. We suggest that ULD mutation has therefore to be searched in case of atypic features for JME in Mediterranean patients or in endogamous context. Disclosure: Dr. Clot has nothing to disclose. Dr. Ben Djebara has nothing to disclose. Dr. Bouteiller has nothing to disclose. Dr. Kacem has nothing to disclose. Dr. Clot has nothing to disclose. Dr. Peuvion has nothing to disclose. Dr. Gargouri has nothing to disclose. Dr. Cazeneuve has nothing to disclose. Dr. Leguern has nothing to disclose. Dr. Gouider has nothing to disclose." @default.
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- W2419665478 date "2013-02-12" @default.
- W2419665478 modified "2023-09-26" @default.
- W2419665478 title "Juvenile Myoclonic Epilepsy Phenotype in a Large Tunisian Family with Genetically Proven Unverricht-Lundborg Disease (P05.091)" @default.
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