KEGG   VARIANT: 8911v1
Entry
8911v1                      Variant                                
Name
CACNA1I gain of function mutation
Type
Gain of function
Gene
CACNA1I  calcium voltage-gated channel subunit alpha1 I [KO:K04856]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608230
Network
nt06528  Calcium signaling
Disease
H02858  Neurodevelopmental disorder with speech impairment and with or without seizures
Reference
PMID:33704440
  Authors
El Ghaleb Y, Schneeberger PE, Fernandez-Quintero ML, Geisler SM, Pelizzari S, Polstra AM, van Hagen JM, Denecke J, Campiglio M, Liedl KR, Stevens CA, Person RE, Rentas S, Marsh ED, Conlin LK, Tuluc P, Kutsche K, Flucher BE
  Title
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
  Journal
Brain 144:2092-2106 (2021)
DOI:10.1093/brain/awab101
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