Nicole Chemaly

INSERM U1163, 24 Boulevard Montparnasse
Paris, 75015, France

Last Updated: 09/26/2026

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Found 65 publications

Expanding the phenotypic and genotypic spectrum of KCNT1-related epilepsies.

Expanding the phenotypic and genotypic spectrum of KCNT1-related epilepsies.

Journal: Brain communications

Published: November 11, 2025

Pediatric tuberous sclerosis complex: assessment of multidisciplinary follow-up in an expert center.

Pediatric tuberous sclerosis complex: assessment of multidisciplinary follow-up in an expert center.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: November 03, 2025

Unveiling sleep disturbances in KCNB1-related disorders: Insights from a cohort of 78 individuals.

Unveiling sleep disturbances in KCNB1-related disorders: Insights from a cohort of 78 individuals.

Journal: Epilepsia open

Published: October 31, 2025

Microsurgical Resection of Subependymal Giant Cell Astrocytoma: Single-Center Retrospective Analysis and Meta-Analysis.

Microsurgical Resection of Subependymal Giant Cell Astrocytoma: Single-Center Retrospective Analysis and Meta-Analysis.

Journal: Neurosurgery

Published: October 18, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Intravenous immunoglobulin and febrile status epilepticus in children with Dravet syndrome: A retrospective multicentre study.

Intravenous immunoglobulin and febrile status epilepticus in children with Dravet syndrome: A retrospective multicentre study.

Journal: Developmental medicine and child neurology

Published: July 28, 2025

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Journal: Journal of medical genetics

Published: July 08, 2025

Assessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies.

Assessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies.

Journal: European journal of neurology

Published: July 01, 2025

GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features.

GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features.

Journal: Epilepsia

Published: January 20, 2025

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature.

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: October 21, 2024

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Journal: Epilepsia open

Published: October 11, 2024

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Last Updated: 09/26/2026