Forschung

Forschungen beim Dup15q-Syndrom, die in den verschieden medizinischen Bereichen, über die letzten Jahre durchgeführt wurden.

Epilepsie

Dysfunctional sodium channel kinetics as a novel epilepsy mechanism in chromosome 15q11-q13 duplication syndrome

Efficacy, Safety and Tolerability of Soticlestat (TAK-935/OV935) as an Adjunctive Therapy in Patients with 15q Duplication Syndrome (Dup15q) or Cyclin-Dependent Kinase-Like 5 Deficiency Disorder (CDD) in a Signal-Finding Phase 2 Study (ARCADE) (4096)

Microbiome research in epilepsy: Hope or hype?

Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP

A survey of seizures and current treatments in 15q duplication syndrome

Genetik

Single gene insufficient to account for dup15q, Angelman traits

M52 – Convergent methylomic signatures between autism associated with duplications of chromosome 15q and idiopathic autism 

Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples

Verdauungssystem

Gastrointestinal problems in 15q duplication syndrome

Schlaf

Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome

Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q)

Autismus / Entwicklung

Longitudinal Case Series of Development and Behavior among Children with Dup15q Syndrome (P11-5.002)

Developmental and behavioral characteristics of children with Dup15q syndrome (P1.6-041)

Quantitative Measures of Motor Function in children with Duplications of 15q11.3–13.1 (Dup15q Syndrome) and Typically Developing (TD) Children (P1.309)

Quantifying Motor Deficits in 15q11.2–q13.1 Duplications (Dup15q syndrome) (P3.218)

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

Parental-reported pain insensitivity in Dup15q

The Increasing Importance of Duplications of Chromosome 15q11.2-q13 in Autism Spectrum Disorders