Webb1 dec. 2001 · KCTD7 mutations have been found in a patient with an atypical clinical presentation characterized by non-epileptic myoclonus and ataxia commencing in early infancy, ... Gene name Length; A0A1X7SBW1: A0A1X7SBW1_HUMAN: KCTD7: 258: C9JTB6: C9JTB6_HUMAN: KCTD7: 179: A0A1W2PP71: A0A1W2PP71_HUMAN: … WebbKCTD7 is a member of the KCTD gene family. 4 The family of proteins shares an N-terminal BTB/POZ domain that demonstrates sequence homology to the TI domain in …
Entry - #611726 - EPILEPSY, PROGRESSIVE MYOCLONIC, …
Webb3 aug. 2024 · Patients with KCTD7 mutations were first diagnosed with progressive myoclonic epilepsy type 3 (EPM3) (15– 17). Subse-quently, the pathological features of ceroid/lipofuscin in peripheral blood and skin biopsy of patients allowed the inclusion of KCTD7 mutation diseases in a subtype of NCL, and the causative KCTD7 gene was … Webb26 maj 2012 · Progressive myoclonic epilepsy is an autosomal recessive disorder caused by mutations in the KCTD7 gene that encodes a potassium channel tetramerization … ships of light
Calpain activity is negatively regulated by a KCTD7–Cullin-3 …
WebbMutations in KCTD7, a gene encoding an adaptor of the CUL3-RING E3 ubiquitin ligase (CRL3) complex, are categorized as a unique NCL subtype. However, the underlying mechanisms remain elusive.... Webb1 juni 2024 · The two were co-segregated with disease phenotype in the family. To our knowledge, this is the first report of KCTD7 mutations causing PME in the Chinese population, with c. 434A > G in particular being a novel mutation. Our findings supported the important role of KCTD7 in PME and broadened the gene's mutation spectrum. WebbNM_153033.5(KCTD7):c.494-3T>C Cite this record. Cite this record Close. Copy. Help Interpretation: Uncertain significance Review status: criteria provided, single submitter Submissions: 1 First in ... quick and simple soup recipes