[Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital Point "G"].
EPILEPSIES MYOCLONIQUES PROGRESSIVES AU SERVICE DE NEUROLOGIE DU CENTRE HOSPITALIER UNIVERSITAIRE DU POINT “G”.
Mali
Progressive myoclonic epilepsy
clinical
gene panel
Journal
Le Mali medical
ISSN: 1993-0836
Titre abrégé: Mali Med
Pays: Mali
ID NLM: 18420390R
Informations de publication
Date de publication:
08 07 2022
08 07 2022
Historique:
entrez:
22
3
2023
pubmed:
23
3
2023
medline:
24
3
2023
Statut:
ppublish
Résumé
Progressive Myoclonic Epilepsy (PME) is a heterogeneous group of pathologies associating epileptic seizures and other neurological and non-neurological disorders. We aim to characterize patients with symptoms of PME and identify the underlying genetic disorder. After informed consent, the patients seen in the protocol for hereditary neurological diseases and presenting signs of epilepsy without a secondary cause were clinically evaluated over a three-year period in the Department of Neurology of the CHU Point "G". EEG, brain imaging and laboratory tests were performed to consolidate our diagnosis. DNA was extracted for genetic analysis. 141 families including five families with PME totaling eight cases were enrolled. The predominant symptoms in our patients were myoclonus in 87.5% (N = 8), followed by GTCS and cognitive impairment in 50%, each. A notion of parental consanguinity was found in 60% and autosomal recessive transmission evoked in 80% (N = 5). The EEG was pathological in 62.5% and imaging showed ponto-cerebellar atrophy in 25% (N = 8). The combination of sodium valproate and clonazepam was the main treatment. One case of death was recorded. We report cases of PME in Mali with a possibility of discovering new genes.
Sections du résumé
Background
Progressive Myoclonic Epilepsy (PME) is a heterogeneous group of pathologies associating epileptic seizures and other neurological and non-neurological disorders.
Objectives
We aim to characterize patients with symptoms of PME and identify the underlying genetic disorder.
Methods
After informed consent, the patients seen in the protocol for hereditary neurological diseases and presenting signs of epilepsy without a secondary cause were clinically evaluated over a three-year period in the Department of Neurology of the CHU Point "G". EEG, brain imaging and laboratory tests were performed to consolidate our diagnosis. DNA was extracted for genetic analysis.
Results
141 families including five families with PME totaling eight cases were enrolled. The predominant symptoms in our patients were myoclonus in 87.5% (N = 8), followed by GTCS and cognitive impairment in 50%, each. A notion of parental consanguinity was found in 60% and autosomal recessive transmission evoked in 80% (N = 5). The EEG was pathological in 62.5% and imaging showed ponto-cerebellar atrophy in 25% (N = 8). The combination of sodium valproate and clonazepam was the main treatment. One case of death was recorded.
Conclusion
We report cases of PME in Mali with a possibility of discovering new genes.
Types de publication
English Abstract
Journal Article
Langues
fre
Sous-ensembles de citation
IM
Pagination
17-21Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG007044
Pays : United States
Déclaration de conflit d'intérêts
Conflits d’intérêts: les auteurs ne déclarent aucun conflit d’intérêts, en termes scientifique, financier et personnel.
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