Disorders

CHRNA2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

Synonym(s): ADNFLE Type 4, Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Type 4, CHRNA2-Related ADNFLE

Gene	Locus	Protein
CHRNA2	8p21	Neuronal acetylcholine receptor subunit alpha-2

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands	• Sequence analysis of the entire coding region

^* 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.