Early Infantile Epileptic Encephalopathy Latest Advances

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

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: September 05, 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

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

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Clinical features and genetic analysis of a child with Christianson syndrome due to variant of SLC9A6 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: June 24, 2025

Protocadherin γC4 regulates neuronal survival and dendritic self-avoidance.

Journal: Communications biology

Published: June 19, 2025

Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.

Journal: NeuroSci

Published: June 10, 2025

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Journal: Experimental and therapeutic medicine

Published: June 06, 2025

Early Infantile Epileptic Encephalopathy Latest Advances

Find the Latest Research About Early Infantile Epileptic Encephalopathy

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.

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

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.

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.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Clinical features and genetic analysis of a child with Christianson syndrome due to variant of SLC9A6 gene

Clinical features and genetic analysis of a child with Christianson syndrome due to variant of SLC9A6 gene

Protocadherin γC4 regulates neuronal survival and dendritic self-avoidance.

Protocadherin γC4 regulates neuronal survival and dendritic self-avoidance.

Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.

Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.