Gelastic seizures, usually with onset in early infancy, are the hallmark manifestation of hypothalamic hamartoma. This seizure type is directly generated by hamartoma itself, intrinsically epileptogenic because of its anatomofunctional organization. Other types of seizures, focal or generalized, may appear during the evolution, probably...
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2017 (v1)PublicationUploaded on: April 14, 2023
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2001 (v1)Publication
Purpose. To evaluate prevalence of Eyelid myoclonia with absence (EMA) among Idiopathic generalized Epilepsies (IGE), and its clinical and evolutive characteristics. Material and method. Retrospective analysis of 2780 epileptic pts. Inclusion criteria: Eyelid myoclonia and microabsences, related to EEG generalized paroxysmal activity, and...
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1999 (v1)Publication
A familial temporal lobe epilepsy with auditory seizures and with linkage to chromosome 10q has been recently described. We have analyzed the frequency of cryptogenic partial Epilepsy with auditory semiology in our epileptic pts. Among over 1500 patients in a period of fifteen years, 16 pts with these seizures have been found. The presence of...
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2019 (v1)Publication
Aims. To further characterise CDKL5-related disorder, previously classified as an early-onset seizure variant of Rett syndrome, which is currently considered a specific and independent early-infantile epileptic encephalopathy. Methods. We describe the epileptic phenotype and neurocognitive development in three girls with CDKL5 mutations showing...
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2003 (v1)Publication
Benign Adult Familial Myoclonic Epilepsy is an AD syndrome characterized from a non progressive cortical tremor resembling essential tremor, myoclonus and rare GTCS, first described from Japanese AA. Despite the different acronyms used (FEME, FCTE, BAFME, FAME), it seems to be a well definite clinical picture. Recently, non-Japanese families...
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2019 (v1)Publication
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convulsive seizures. Prevalence is unknown since this condition is often under-recognized, but it is...
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2019 (v1)Publication
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2020 (v1)Publication
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2015 (v1)Publication
A comprehensive collection of the most recent knowledge on the biological bases of various kinds of epilepsies and modern clinical approaches to their treatment. Epilepsy affects about 0.5-1% of the world's population (about 50,000,000 individuals) and the main goal of its treatment is to eliminate seizures without creating side effects....
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2020 (v1)Publication
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2020 (v1)Publication
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Uploaded on: February 14, 2024 -
2017 (v1)Publication
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2019 (v1)Publication
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Uploaded on: April 14, 2023