Eleni Panagiotakaki

Lyon, France

Last Updated: 09/26/2026

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Found 44 publications

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Journal: Neuropediatrics

Published: November 19, 2025

Ictal semiology in fronto-opercular epilepsy: A systematic review.

Ictal semiology in fronto-opercular epilepsy: A systematic review.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: October 17, 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

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 28, 2025

Natural History of Alternating Hemiplegia of Childhood: Vulnerabilities in Early Childhood and Predictive Factors for Long-Term Outcomes.

Natural History of Alternating Hemiplegia of Childhood: Vulnerabilities in Early Childhood and Predictive Factors for Long-Term Outcomes.

Journal: Annals of the Child Neurology Society

Published: June 14, 2025

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

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.

Journal: JAMA pediatrics

Published: March 03, 2025

Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.

Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Journal: American journal of medical genetics. Part A

Published: June 02, 2024

Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.

Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: April 16, 2024

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Journal: Epilepsia

Published: November 10, 2023

Showing 1-12 of 44

Last Updated: 09/26/2026