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YENDLE , Simone C.

Last name: YENDLE

First name: Simone C.

2015 (v1)

Publication

Metadata-only

Mutations in KCNT1 cause a spectrum of focal epilepsies

Møller, Rikke S. Heron, Sarah E. Larsen, Line H. G.

Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with...

Uploaded on: April 14, 2023