PRRT2 Mutations are the major cause of benign familial infantile seizures-Reference-Cited by-同舟云学术

PRRT2 Mutations are the major cause of benign familial infantile seizures

Published:2012-06-11 Issue:10 Volume:33 Page:1439-1443
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Schubert Julian,Paravidino Roberta,Becker Felicitas,Berger Andrea,Bebek Nerses,Bianchi Amedeo,Brockmann Knut,Capovilla Giuseppe,Dalla Bernardina Bernardo,Fukuyama Yukio,Hoffmann Georg F.,Jurkat-Rott Karin,Anttonen Anna-Kaisa,Kurlemann Gerhard,Lehesjoki Anna-Elina,Lehmann-Horn Frank,Mastrangelo Massimo,Mause Ulrike,Müller Stephan,Neubauer Bernd,Püst Burkhard,Rating Dietz,Robbiano Angela,Ruf Susanne,Schroeder Christopher,Seidel Andreas,Specchio Nicola,Stephani Ulrich,Striano Pasquale,Teichler Jens,Turkdogan Dilsad,Vigevano Federico,Viri Maurizio,Bauer Peter,Zara Federico,Lerche Holger,Weber Yvonne G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22126/fullpdf

Reference26 articles.

1. Refinement of the chromosome 16 locus for benign familial infantile convulsions;Callenbach;Clin Genet,2005

2. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome;Caraballo;Am J Hum Genet,2001

3. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia;Chen;Nat Genet,2011

4. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder;Du;Nat Genet,2005

5. Borderland of childhood epilepsy, with special references to febrile convulsions and so-called infantile convulsions;Fukuyama;Seishin Igaku (Tokyo),1963

Cited by 96 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy;European Journal of Human Genetics;2024-02-05

2. Three siblings with self-limited familial infantile epilepsy with PRRT2 mutation: A case series;SAGE Open Medical Case Reports;2024-01

3. Epilepsies;Handbook of Clinical Neurology;2024

4. Advances in Self-Limited Infantile Epilepsy;Advances in Clinical Medicine;2024

5. Solving the unsolved genetic epilepsies: Current and future perspectives;Epilepsia;2023-10-17