Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome Latest Advances

Identification of a putative founder effect involving the HACE1:c.1396C>T variant in two Iranian families and review of reported cases.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: December 21, 2025

Clinical characteristics and genetic study of a child with Spastic paraplegia 52 due to variant of AP4S1 gene and a literature review

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

Published: November 13, 2025

Spastic Quadriplegia Resulting From a Pathogenic Variant in the SPAST Gene: A First Report.

Journal: Case reports in neurological medicine

Published: September 24, 2025

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Journal: European journal of human genetics : EJHG

Published: May 20, 2025

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Journal: medRxiv : the preprint server for health sciences

Published: November 06, 2024

CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.

Journal: European journal of medical genetics

Published: July 25, 2024

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

Journal: Seizure

Published: June 11, 2024

Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.

Journal: Heliyon

Published: March 21, 2024

Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.

Journal: EMBO molecular medicine

Published: March 15, 2024

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.

Journal: International journal of molecular sciences

Published: January 08, 2024

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.

Journal: Autophagy

Published: September 07, 2023

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Journal: Genes

Published: March 02, 2023

Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome Latest Advances

Find the Latest Research About Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome

Identification of a putative founder effect involving the HACE1:c.1396C>T variant in two Iranian families and review of reported cases.

Identification of a putative founder effect involving the HACE1:c.1396C>T variant in two Iranian families and review of reported cases.

Clinical characteristics and genetic study of a child with Spastic paraplegia 52 due to variant of AP4S1 gene and a literature review

Clinical characteristics and genetic study of a child with Spastic paraplegia 52 due to variant of AP4S1 gene and a literature review

Spastic Quadriplegia Resulting From a Pathogenic Variant in the SPAST Gene: A First Report.

Spastic Quadriplegia Resulting From a Pathogenic Variant in the SPAST Gene: A First Report.

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.

CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.

Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.

Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.

Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.