Concepedia
Author
Affef Abidi
Also Known As
11
Publications
286
Citations
6
H-Index
23
Concepts
All Affiliations
1
4
174
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160
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All Concepts
281
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
Affef Abidi, Jérôme Devaux, Florence Molinari, +21
Neurobiology of Disease
Epileptic EncephalopathyChannelopathiesMolecular PhysiologyHyperpolarization (Biology)Neurophysiology +10
2015
Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases
Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, +27
Epilepsia
61
Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations
Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, +11
American Journal of Medical Genetics Part A
46
A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity
Jérôme Devaux, Affef Abidi, Agathe Roubertie, +6
Kv7.2 MutationSynaptic TransmissionNeurotransmissionCellular NeurobiologySynaptic Signaling +19
2016
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient
Affef Abidi, Cécile Mignon‐Ravix, Pierre Cacciagli, +3
European Journal of Human Genetics
Neurobiology Of DiseaseEarly-onset Epileptic EncephalopathyNeurological DisorderInitial Clinical PresentationBrain Injury +7
43
Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration
Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, +4
European Journal of Paediatric Neurology
Neurodegenerative DiseasesMendelian DisorderNovel CaseDisease MechanismGenetic Disorder +9
2017
14
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