SLC9A6 and epilepsy: This patient presented drug refractory epilepsy, global psychomotor development delay, microcephaly, underweight, feeding difficulties, hyperkinesis, attention‐deficit, ataxic gait and mild CA, no mouth opening, and no drooling and had a de novo splice‐site variant in SLC9A6 on the X chromosome which caused a skipping transcription of exon 12.