Litcius/Paper detail

A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome

Kazuyuki Komatsu, Shinobu Fukumura, Kimio Minagawa, Mitsuko Nakashima, Hirotomo Saitsu

2022Brain and Development12 citationsDOI

Topics & Concepts

Paroxysmal dyskinesiaMicrodeletion syndromeMedicineGeneticsExome sequencingMovement disordersPediatricsAutism spectrum disorderChoreoathetosisAtaxiaDyskinesiaAutismPhenotypeInternal medicineDystoniaBiologyPsychiatryGeneDiseaseParkinson's diseaseEpilepsy research and treatmentGenomics and Rare DiseasesNeurological disorders and treatments
A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome | Litcius