Export abgeschlossen — 

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

OBJECTIVE: To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy. METHODS: We identified a cohort of 31 patients with epilepsy of infancy with migrating focal seizures (EIMFS) and screened for variants in...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Neurology
Hauptverfasser: McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling”, Cross, J. Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Lippincott Williams & Wilkins 2018
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5754647/
https://ncbi.nlm.nih.gov/pubmed/29196579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000004762
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Wird geladen...

Ähnliche Einträge