ITPR1 and ataxic cerebral palsy: Two ITPR1 missense mutations (p.N587D and p.S1487D, reference sequence NM_001168272) were recognized as a cause of ataxic cerebral palsy [21], while an ITPR1 missense mutation (p.I2583N, reference sequence NM_001168272) was recently identified to result in severe pontine and cerebellar hypoplasia [22].