KCTD7 antibody - N-terminal region (ARP35422_P050)
- Known as:
- KCTD7 (anti-) - N-terminal region (ARP35422_P050)
- Catalog number:
- arp35422_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- KCTD7 antibody - N-terminal region (ARP35422_P050)
Related genes to: KCTD7 antibody - N-terminal region (ARP35422_P050)
- Gene:
- KCTD7 NIH gene
- Name:
- potassium channel tetramerization domain containing 7
- Previous symbol:
- -
- Synonyms:
- FLJ32069, EPM3, CLN14
- Chromosome:
- 7q11.21
- Locus Type:
- gene with protein product
- Date approved:
- 2003-10-28
- Date modifiied:
- 2019-04-23
Related products to: KCTD7 antibody - N-terminal region (ARP35422_P050)
Related articles to: KCTD7 antibody - N-terminal region (ARP35422_P050)
- Progressive myoclonic epilepsies (PMEs) are severe epileptic encephalopathies characterized by drug-resistant seizures, myoclonus, neuroregression, and ataxia. Biallelic variants in KCTD7 cause a rare autosomal recessive PME (MIM #611726). - Source: PubMed
Publication date: 2026/01/07
Sangeeth Thuppanattumadam AnanthasubramanianViswanathan L GPadmanabha HansashreeJanardhanan AkshayaAsranna AjayArunachal GauthamKenchaiah RaghavendraCm RavindranadhSaini JitenderSinha Sanjib - The etiology of drug-resistant epilepsy (DRE) is multifactorial. A small proportion of affected patients are diagnosed with genetics. Nowadays, specific gene panels and whole-exome sequencing (WES) have increased the opportunities for specific diagnosis and treatments with developments in genetics. In this cohort study, we determined the specific diagnostic value of gene panels and WES analysis in our cases with the diagnosis of DRE. - Source: PubMed
Publication date: 2026/01/09
Kılıç BetülTopçu YaseminAyaz AkifÖzpınar EsraSeyhan SerhatDemir Aslı G ÖPalaz MehmetTuranlı GüzideAydın Kürşad - Biallelic variants in have been associated with progressive myoclonic epilepsy (PME), a rare autosomal recessive disorder characterized by early-onset epilepsy, cognitive decline, myoclonus, and ataxia. - Source: PubMed
Publication date: 2025/11/12
Song JingjingWu WenlinTian YangQin LuoxiaoWei ShitaoYu BinSu HaoHuang LipingLiu WenhuiHuang Xiaoli
- Source: PubMed
- KCTD7-related epilepsy is a rare neurogenetic disorder characterized by marked genetic and phenotypic heterogeneity, typically presenting with early onset and often exhibiting poor response to conventional antiseizure medications. - Source: PubMed
Publication date: 2025/09/25
Binaafar SimaBadv Reza ShervinRashidi-Nezhad AliBehmanesh Mehrdad