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

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

10 Apr 2006

Abstract excerpt

BACKGROUND: Andermann syndrome (OMIM 218000) is an autosomal recessive motor-sensory neuropathy associated with developmental and neurodegenerative defects. The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome. METHODS: The authors assessed clinically and genetically three...

Read the complete abstract on PubMed

Topics

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

Share to Fetal and Pediatric Neurological Disorders
Share to Genetic Syndromes and Imprinting
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 16606917
DOI: 10.1212/01.wnl.0000204181.31175.8b

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndromePMID 16606917Read ↗

Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.Semantic proximity Read ↗

A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?Semantic proximity Read ↗

Andermann syndrome in a Turkish patient.Semantic proximity Read ↗

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.Semantic proximity Read ↗

Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.Semantic proximity Read ↗

Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.Semantic proximity Read ↗

A role for KCC3 in maintaining cell volume of peripheral nerve fibersSemantic proximity Read ↗

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.Semantic proximity Read ↗

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.Semantic proximity Read ↗

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system.Semantic proximity Read ↗

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.Semantic proximity Read ↗

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