Early Infantile Epileptic Encephalopathy Latest Advances

Clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: November 13, 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

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

Journal: Clinical genetics

Published: August 11, 2025

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.

Journal: HGG advances

Published: July 16, 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

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

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

Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature.

Journal: World journal of clinical pediatrics

Published: May 26, 2025

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Journal: medRxiv : the preprint server for health sciences

Published: May 19, 2025

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Journal: medRxiv : the preprint server for health sciences

Published: May 19, 2025

MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.

Journal: Molecular genetics and metabolism

Published: April 21, 2025

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Clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants

Clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants

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.

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.

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.

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.

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

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.

Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature.

Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature.

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.

MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.