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Praxis induction. Definition, relation to epilepsy syndromes, nosological and prognostic significance. A focused review
(W B Saunders Co Ltd, 2014-04-01)
Purpose: There is increasing awareness that reflex epileptic mechanisms provide unique insight into ictogenesis in human epilepsies. Several of the described triggers have in common that they imply complex visuomotor ...
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
(Lippincott Williams & Wilkins, 2016)
OBJECTIVE:
To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
METHODS:
We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, ...
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
(Lippincott Williams & Wilkins, 2016)
OBJECTIVE:
To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
METHODS:
We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, ...
Juvenile myoclonic epilepsy: The impact of clinical variables and psychiatric disorders on executive profile assessed with a comprehensive neuropsychological battery
(ACADEMIC PRESS INC ELSEVIER SCIENCESAN DIEGO, 2012)
Executive dysfunction is reported in juvenile myoclonic epilepsy (JME). However, batteries employed in previous studies included no more than three tests of executive function. In this study, we aimed to assess executive ...
Genetic testing in the epilepsies-Report of the ILAE Genetics Commission
(Wiley-blackwell Publishing, IncMaldenEUA, 2010)
The Genetics Of Epilepsies
(, 2008)
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies
(2022)
Background and objectives: Pathogenic variants in the neuronal sodium channel α1 subunit gene (SCN1A) are the most frequent monogenic cause of epilepsy. Phenotypes comprise a wide clinical spectrum, including severe childhood ...
Recent Developments In The Genetics Of Childhood Epileptic Encephalopathies: Impact In Clinical Practice
(ASSOC ARQUIVOS NEURO- PSIQUIATRIASAO PAULO SP, 2015)