Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

BACKGROUND: The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterized by myoclonus, epilepsy, and neurological deterioration. We aimed to identify the underlying gene(s) in childhood-onset PME patients with unknown molecular gene...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Kousi, Maria, Anttila, Verneri, Schulz, Angela, Calafato, Stella, Jakkula, Eveliina, Riesch, Erik, Myllykangas, Liisa, Kalimo, Hannu, Topcu, Meral, Gokben, Sarenur, Alehan, Fusun, Lemke, Johannes R, Alber, Michael, Palotie, Aarno, Kopra, Outi, Lehesjoki, Anna-Elina
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3773914/
https://ncbi.nlm.nih.gov/pubmed/22693283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-100859
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky