Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion

Neurology. 2011 Oct 4;77(14):1401-2. doi: 10.1212/WNL.0b013e31823152d7. Epub 2011 Sep 21.

Authors

Russell C Dale¹, Padraic Grattan-Smith, Victor S C Fung, Greg B Peters

Affiliation

¹ Movement Disorder Clinic, the Children’s Hospital at Westmead, Australia. russelld@chw.edu.au

PMID: 21940615
DOI: 10.1212/WNL.0b013e31823152d7

No abstract available

Publication types

Case Reports

MeSH terms

Child
Chromosome Deletion
Chromosomes, Human, Pair 17 / genetics
Dyskinesias / genetics*
Dyskinesias / pathology
Epilepsy, Benign Neonatal / genetics*
Epilepsy, Benign Neonatal / pathology
Humans
Magnetic Resonance Imaging
Male
Mitogen-Activated Protein Kinase 3 / genetics
Seizures / genetics*
Seizures / pathology
Smith-Magenis Syndrome

Substances

Mitogen-Activated Protein Kinase 3

Supplementary concepts

Chromosome 17 deletion
Infantile convulsions and paroxysmal choreoathetosis, familial