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

Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms.

Neuroreport - 3 May 2017

Raghuram Vijeta, Weber Sydney, Raber Jacob, Chen Dong-Hui, Bird Thomas D, Maylie James, Adelman John P

Abstract excerpt

Exome sequencing from a patient with neurological and developmental symptoms revealed two mutations in separate genes. One was a homozygous transition mutation that results in an in-frame, premature translational stop codon in the ZNF135 gene predicted to encode a transcriptional repressor. Another mutation was heterozygous, a single nucleotide duplication in the KCNN2 gene that encodes a Ca-activated K channel,...

Read the complete abstract on PubMed

Topics

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

Share to CRISPR-Cas Systems
Share to Gene Editing
Share to Gene Knock-In Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hippocampus

Share to Motor Activity

Share to Nervous System Diseases

Share to Small-Conductance Calcium-Activated Potassium Channels

Share to Tissue Culture Techniques

Source

Open in PubMed Open full text

Identifiers

PMID: 28240725
DOI: 10.1097/WNR.0000000000000754
PMCID: PMC5378592

Genes

KCNN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 9 closest

Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms.PMID 28240725Read ↗

<i>ZNF423</i> patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalitiesSemantic proximity Read ↗

Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.Semantic proximity Read ↗

ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities.Semantic proximity Read ↗

Behavioral effects of a deletion in Kcnn2, the gene encoding the SK2 subunit of small-conductance Ca2+-activated K+ channels.Semantic proximity Read ↗

Anaesthesia and orphan disease: primary autosomal recessive microcephaly-10 caused by a mutation in the ZNF335 gene.Semantic proximity Read ↗

Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy.Semantic proximity Read ↗

Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.Semantic proximity Read ↗

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.Semantic proximity Read ↗

Zic2 hypomorphic mutant mice as a schizophrenia model and ZIC2 mutations identified in schizophrenia patients.Semantic proximity Read ↗

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