Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.

Human genetics - 1 May 2024

Sahly Ahmed N, Sierra-Marquez Juan, Bungert-Plümke Stefanie, Franzen Arne, Mougharbel Lina, Berrahmoune Saoussen, Dassi Christelle, Poulin Chantal, Srour Myriam, Guzman Raul E, Myers Kenneth A

Abstract excerpt

CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. CLCN4 encodes the vesicular 2Cl-/H+ exchanger ClC-4, and CLCN4 pathogenic variants frequently result in altered ClC-4 transport activity. The precise cellular and molecular function of ClC-4 remains unknown; however, together with ClC-3, ClC-4 is thought to have a role in the ion homeostasis of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chloride Channels

Share to Epilepsy

Share to Genetic Association Studies

Share to Infant

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 38578438
DOI: 10.1007/s00439-024-02668-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.PMID 38578438Read ↗

Genotype-Phenotype Correlation in CLCN4-Related Developmental and Epileptic EncephalopathySemantic proximity Read ↗

Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.Semantic proximity Read ↗

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.Semantic proximity Read ↗

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.Semantic proximity Read ↗

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.Semantic proximity Read ↗

The molecular and phenotypic spectrum of CLCN4-related epilepsy.Semantic proximity Read ↗

Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.Semantic proximity Read ↗

De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.Semantic proximity Read ↗

The epilepsy phenotype of KCNK4-related neurodevelopmental disease.Semantic proximity Read ↗

Expanding the genotype-phenotype spectrum in SCN8A-related disorders.Semantic proximity Read ↗

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlationsSemantic proximity Read ↗

SCN3A-related neurodevelopmental disorder: Clinical case reports and biophysical characterization.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.