Early Infantile Epileptic Encephalopathy Latest Advances

Find the Latest Research About Early Infantile Epileptic Encephalopathy

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 243 publications

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Journal: American journal of medical genetics. Part A
Published: April 29, 2026

Long-Term Follow-Up of a Patient with a Novel Homozygous ASTN1 Variant: A Case Report.

Long-Term Follow-Up of a Patient with a Novel Homozygous ASTN1 Variant: A Case Report.

Journal: Neurology international
Published: March 19, 2026

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat.

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat.

Journal: Journal of clinical laboratory analysis
Published: March 06, 2026

A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye.

A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye.

Journal: Molecular syndromology
Published: March 05, 2026

Rare somatic manifestations of telomere biology disorders.

Rare somatic manifestations of telomere biology disorders.

Journal: Seminars in hematology
Published: February 03, 2026

Rare Genetic Diseases with Founder Effect in Roma Children.

Rare Genetic Diseases with Founder Effect in Roma Children.

Journal: Life (Basel, Switzerland)
Published: January 18, 2026

Expandingthe Phenotypic Spectrum of PUS3 Deficiency: A p.Tyr71Cys Case Demonstrating a Stable, Nonprogressive Leukoencephalopathy Pattern.

Expandingthe Phenotypic Spectrum of PUS3 Deficiency: A p.Tyr71Cys Case Demonstrating a Stable, Nonprogressive Leukoencephalopathy Pattern.

Journal: Molecular syndromology
Published: December 11, 2025

Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.

Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.

Journal: JIMD reports
Published: November 13, 2025

First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.

First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.

Journal: Balkan journal of medical genetics : BJMG
Published: November 07, 2025

An Adult Presentation of KIF11-Related MCLID Syndrome: Case Report and 40-Year Follow-Up.

An Adult Presentation of KIF11-Related MCLID Syndrome: Case Report and 40-Year Follow-Up.

Journal: American journal of medical genetics. Part A
Published: October 09, 2025

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: October 07, 2025

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: October 07, 2025
Showing 1-12 of 243

Last Updated: 09/26/2026