Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient.
Willem M A VerhoevenJosé ZuijdamAnneke ScheickFrederiek van NieuwenhuijsenAnne-Suus ZwemerRolph PfundtJos I M EggerPublished in: International medical case reports journal (2022)
This case stresses that exome sequencing should be the first-tier diagnostic test for patients with unexplained neurodevelopmental disorders, regardless of their age, and that as yet the most suitable approach is the formation of an interdisciplinary team for treatment design and clinical management.