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The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families
Purpose:Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11–13, have recently been reported to cause… Expand
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
- G. Horvath, M. Demos, +15 authors C. V. van Karnebeek
- Medicine, Biology
- Molecular genetics and metabolism
We describe neurotransmitter abnormalities in two patients with drug-resistant epilepsy resulting from deleterious de novo mutations in sodium channel genes. Whole exome sequencing identified a de… Expand
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual…
- G. Horvath, M. Tarailo-Graovac, +7 authors C. V. van Karnebeek
- Journal of child neurology
PAK3-related intellectual disability is caused by mutations in the gene encoding the p21-activated kinase (PAK) protein. It is characterized by mild to moderate cognitive impairment,… Expand
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
- Björn Fischer-Zirnsak, Lara Segebrecht, +35 authors Nadja Ehmke
- Biology, Medicine
- American journal of human genetics
- 25 July 2019
Notch signaling is an established developmental pathway for brain morphogenesis. Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay,… Expand