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Last Updated: 03/06/2025
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Found 416 publications
Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.
Journal: American journal of medical genetics. Part A
Published: March 23, 2024
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.
Journal: International journal of molecular sciences
Published: January 31, 2024
KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.
Journal: Epilepsy & behavior : E&B
Published: January 10, 2024
A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression.
Journal: Case reports in pediatrics
Published: September 04, 2023
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 16, 2023
iCCA: a new diagnostic approach for a new therapeutic management!
Journal: Annales de pathologie
Published: December 28, 2022
Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: December 13, 2022
Potassium channelopathies associated with epilepsy-related syndromes and directions for therapeutic intervention.
Journal: Biochemical pharmacology
Published: November 07, 2022
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: October 10, 2022
Last Updated: 03/06/2025