ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

Patient informs himself in diagnostic booklet

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.

NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?