channel alpha subunit, is a voltage gated potassium channel encoded by the KCNMA1 gene and characterized by their large conductance of potassium ions (K+)...
Click to read more »her mother or father, it created itself. Specifically a break within the KCNMA1 gene, and she was the first patient of her kind, she's “groundbreaking”...
Click to read more »Cereblon binds to the large-conductance calcium-activated potassium channel (KCNMA1) and regulates its activity. Moreover, mice lacking this channel develop...
Click to read more »Each monomer of the channel-forming alpha subunit is the product of the KCNMA1 gene (also known as Slo1). The Slo1 subunit has three main structural domains...
Click to read more »Q96T55 8038 KCNK17 HGNC:14465; Q96T54 8039 KCNK18 HGNC:19439; Q7Z418 8040 KCNMA1 HGNC:6284; Q12791 8041 KCNMB1 HGNC:6285; Q16558 8042 KCNMB2 HGNC:6286; Q9Y691...
Click to read more »x: Kv9.1 (KCNS1), Kv9.2 (KCNS2), Kv9.3 (KCNS3) KCa1.1 (BK, Slo1, Maxi-K, KCNMA1) KCa2.x: KCa2.1 (KCNN1) - SK1, KCa2.2 (KCNN2) - SK2, KCa2.3 (KCNN3) - SK3...
Click to read more »channels are highly important in the cerebellum. KCa1.1 (BK, Slo1, Maxi-K, KCNMA1) Beta subunits: β1, β2, β3, β4 Intermediate conductance channels seem to...
Click to read more »Other pathogenic variants have been identified in the KMT2B, KCNT1, and KCNMA1 genes. Less commonly, status dystonicus can be the first manifestation of...
Click to read more »231050; ADAMTSL2 Generalized epilepsy and paroxysmal dyskinesia; 609446; KCNMA1 Generalized epilepsy with febrile seizures plus; 604233; SCN1B Germ cell...
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