The complexities of CACNA1A in clinical neurogenetics
Marina P. Hommersom, Teije van Prooije, Maartje Pennings, Meyke Schouten, Hans van Bokhoven, Erik‐Jan Kamsteeg, Bart P.C. van de Warrenburg
Topics & Concepts
PhenotypeExome sequencingMacrocephalyGeneticsChannelopathyEpilepsyIntellectual disabilityAtaxiaNeurogeneticsNeurologyMedicineBiologyBioinformaticsNeuroscienceGeneGenetic Neurodegenerative DiseasesNeurological diseases and metabolismGlycogen Storage Diseases and Myoclonus