Literature associating EFHC1 and electroclinical syndrome
EF-hand domain (C-terminal) containing 1; Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization. Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration. May enhance calcium influx through CACNA1E and stimulate programmed cell death; EF-hand domain containing
Synonyms: EFHC1, EFHC1p, hEFHC1, B2CKC5, EFHC1-001 ...