Stephanie Baulac
Paris, France
Last Updated: 09/26/2026
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Found 86 publications
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.
Journal: Nature genetics
Published: September 02, 2025
Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 deletion.
Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 deletion.
Journal: Brain : a journal of neurology
Published: May 30, 2025
From brain mosaicism to epilepsy: toward a novel targeted therapeutic strategy
Journal: Medecine sciences : M/S
Published: April 28, 2025
Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives.
Journal: Revue neurologique
Published: February 16, 2025
DEPDC5 regulates the strength of excitatory synaptic transmission by interacting with ubiquitin-specific protease 46.
Journal: Neurobiology of disease
Published: December 18, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.
Journal: Nature communications
Published: August 13, 2024
Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.
Journal: Neurology. Genetics
Published: April 17, 2024
WONOEP 2022: Neurotechnology for the diagnosis of epilepsy.
Journal: Epilepsia
Published: March 11, 2024
Last Updated: 09/26/2026