Anne-lise Poulat

Lyon, France

Last Updated: 09/26/2026

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Found 20 publications

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology

Published: May 26, 2026

Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).

Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN).

Journal: Stem cell research

Published: February 17, 2026

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.

Journal: European journal of neurology

Published: April 22, 2025

Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals.

Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals.

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

Published: February 28, 2025

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics

Published: January 23, 2025

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Journal: Annals of neurology

Published: March 09, 2024

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Journal: Neurology. Genetics

Published: December 07, 2023

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Journal: European journal of human genetics : EJHG

Published: August 01, 2023

Cognitive and academic outcomes in children with myelin oligodendrocyte glycoprotein antibody-associated disease.

Cognitive and academic outcomes in children with myelin oligodendrocyte glycoprotein antibody-associated disease.

Journal: Developmental medicine and child neurology

Published: April 19, 2023

CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.

CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.

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

Published: April 01, 2021

Phenotypic and Imaging Spectrum Associated With WDR45.

Phenotypic and Imaging Spectrum Associated With WDR45.

Journal: Pediatric neurology

Published: August 27, 2019

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Journal: Brain : a journal of neurology

Published: July 27, 2019

Showing 1-12 of 20

Last Updated: 09/26/2026