Disorders


 

CHRNA4-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant


Synonym(s): ADNFLE Type 1, Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Type 1, CHRNA4-Related ADNFLE

 

OMIM

GeneLocusProtein
CHRNA420Neuronal acetylcholine receptor subunit alpha-4

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
Ludwig-Maximilians University Munich, Institute of Human Genetics - Munich, Germany• Sequence analysis of select exons
  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
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.

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