Publications by authors named "Affef Abidi"

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CEP290 deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids.
Melanie Eschment, Olivier Mercey, Ellen M Aarts, Ludovico Perego, Joana Figueiro-Silva, Affef Abidi

J Cell Sci· October 2025

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CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines.
Joana Figueiro-Silva, Melanie Eschment, Michelle Mennel, Affef Abidi, Beatrice Oneda

Stem Cell Res· September 2025

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Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols.
Walther Haenseler, Melanie Eschment, Beth Evans, Marta Brasili, Joana Figueiro-Silva, Affef Abidi

Front Cell Dev Biol· April 2025

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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, Cécile Mignon-Ravix, Brigitte Chabrol

Eur J Paediatr Neurol· September 2017

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A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.
Jérôme Devaux, Affef Abidi, Agathe Roubertie, Florence Molinari, Hélène Becq

Epilepsia· May 2016

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Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.
Affef Abidi, Cécile Mignon-Ravix, Pierre Cacciagli, Nadine Girard, Mathieu Milh

Eur J Hum Genet· April 2016

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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Chloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi

Epilepsia· December 2015

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Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo

Am J Med Genet A· October 2015

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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 J Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon

Neurobiol Dis· August 2015

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