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American Journal of Human Genetics|May 13, 2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessIsabelle Perrault, Fadi F Hamdan, Marlène Rio, et al.
Blood|March 25, 2021
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disordersRomain Duval, Gaël Nicolas, Alexandra Willemetz, et al.
Human Mutation|April 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual DisabilityAmélie Cordovado, Yvan Hérenger, Coline Cormier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 30, 2019
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiencyNandaki Keshavan, Jose Abdenur, Glenn Anderson, et al.
American Journal of Human Genetics|February 13, 2018
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyDorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, et al.
Brain Communications|April 2, 2026
Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial diseaseAlessandra Torraco, Charlotte L Alston, Giulia Barcia, et al.
Brain : a Journal of Neurology|September 19, 2019
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEPMathieu Kuchenbuch, Giulia Barcia, Nicole Chemaly, et al.
Brain : a Journal of Neurology|August 6, 2024
Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical developmentNaziha Bakouh, Reyes Castaño-Martín, Alice Metais, et al.
European Journal of Medical Genetics|January 29, 2022
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsiesLionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, et al.
Epilepsy & Behavior : E&B|December 16, 2021
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathyClaire Bar, Delphine Breuillard, Mathieu Kuchenbuch, et al.
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