The phenotypic spectrum of SCN8A encephalopathy.

Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders.

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Objective: To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations.

Methods: We sequenced the PNPO gene in 31 patients who fulfilled the above-mentioned criteria.

Results: We were able to identify 11 patients carrying 3 novel mutations of the PNPO gene.