Disorders

Progressive Myoclonic Epilepsy 3 with or without Intracellular Inclusions

Synonym(s): EPM3, Progressive Myoclonus Epilepsy 3 with or without Intracellular Inclusions

Gene	Locus	Protein
KCTD7	7q11.21	BTB/POZ domain-containing protein KCTD7

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.