– A138V: the substitution creates a cryptic splice donor site in the second exon.Found in one patient affected by epilepsy, impairments of social interactions and communications skills, lack of spoken language and poor communicating gestures.– De novo 9q23/10q22 translocation destructing KCNMA1: found in one patient affected by impairments of social interactions and communication skills, lack of spoken language and poor communicating gestures. The gene discussed is KCNMA1; the disease is epilepsy.