Early Infantile Epileptic Encephalopathy Latest Advances

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

Journal: Neurology international

Published: March 19, 2026

Rare somatic manifestations of telomere biology disorders.

Journal: Seminars in hematology

Published: February 03, 2026

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.

Journal: Molecular syndromology

Published: December 11, 2025

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

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.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: October 07, 2025

Identification of De Novo ZBTB18 Variant in a Patient With Global Developmental Delay, Seizures, and Juvenile Facies.

Journal: International journal of pediatrics

Published: September 16, 2025

MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.

Journal: Clinical genetics

Published: August 11, 2025

Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.

Journal: Molecular genetics and metabolism reports

Published: July 25, 2025

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.

Journal: Frontiers in cellular neuroscience

Published: July 13, 2025

Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients.

Journal: Journal of medical genetics

Published: July 02, 2025

Early Infantile Epileptic Encephalopathy Latest Advances

Find the Latest Research About Early Infantile Epileptic Encephalopathy

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.

Rare somatic manifestations of telomere biology disorders.

Rare somatic manifestations of telomere biology disorders.

Rare Genetic Diseases with Founder Effect in Roma Children.

Rare Genetic Diseases with Founder Effect in Roma Children.

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.

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.

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.

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.

Identification of De Novo ZBTB18 Variant in a Patient With Global Developmental Delay, Seizures, and Juvenile Facies.

Identification of De Novo ZBTB18 Variant in a Patient With Global Developmental Delay, Seizures, and Juvenile Facies.

MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.

MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.

Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.

Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.

Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients.

Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients.