Benign Familial Neonatal Seizures Latest Advances

A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.

Journal: Journal of child neurology

Published: February 09, 2026

Delayed excitability recovery and downregulation of neurodevelopmental pathways contribute to phenotypic differences in KCNQ2-related disorders.

Journal: Epilepsia

Published: April 09, 2025

Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.

Journal: Neuroscience bulletin

Published: September 20, 2024

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome.

Journal: BMC pediatrics

Published: May 16, 2024

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

Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.

Journal: Seizure

Published: September 27, 2023

A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression.

Journal: Case reports in pediatrics

Published: September 04, 2023

KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.

Journal: Neuropediatrics

Published: March 22, 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

Benign Familial Neonatal Seizures Latest Advances

Find the Latest Research About Benign Familial Neonatal Seizures

A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.

A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.

Delayed excitability recovery and downregulation of neurodevelopmental pathways contribute to phenotypic differences in KCNQ2-related disorders.

Delayed excitability recovery and downregulation of neurodevelopmental pathways contribute to phenotypic differences in KCNQ2-related disorders.

Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.

Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome.

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome.

Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.

Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.

KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.

KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.

Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.

Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.

A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression.

A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression.

KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.

KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.

PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).

PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).

iCCA: a new diagnostic approach for a new therapeutic management!

iCCA: a new diagnostic approach for a new therapeutic management!