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

Self-limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: December 29, 2025

Navigating the complexities of dual CNV findings: a case of DEE7 caused by a de novo KCNQ2 deletion and a Co-occurring chromosome 13 duplication - a case report and literature review.

Journal: Frontiers in pediatrics

Published: November 02, 2025

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Journal: Epilepsia open

Published: October 27, 2025

Integrated genotype-phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2-related disorders.

Journal: Epilepsia

Published: July 08, 2025

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

Journal: Epilepsia

Published: April 09, 2025

Autism Spectrum Disorder and Atypical Epilepsy Presentation in KCNQ3 Mutations: Expansion of Phenotypic Spectrum With Neuroimaging Findings.

Journal: Case reports in pediatrics

Published: March 16, 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

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.

Self-limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review.

Self-limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review.

Navigating the complexities of dual CNV findings: a case of DEE7 caused by a de novo KCNQ2 deletion and a Co-occurring chromosome 13 duplication - a case report and literature review.

Navigating the complexities of dual CNV findings: a case of DEE7 caused by a de novo KCNQ2 deletion and a Co-occurring chromosome 13 duplication - a case report and literature review.

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Integrated genotype-phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2-related disorders.

Integrated genotype-phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2-related disorders.

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.

Autism Spectrum Disorder and Atypical Epilepsy Presentation in KCNQ3 Mutations: Expansion of Phenotypic Spectrum With Neuroimaging Findings.

Autism Spectrum Disorder and Atypical Epilepsy Presentation in KCNQ3 Mutations: Expansion of Phenotypic Spectrum With Neuroimaging Findings.

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.