Homozygous c.649dupC mutation inPRRT2worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences-Reference-Cited by-同舟云学术

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Homozygous c.649dupC mutation inPRRT2worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

Published:2012-11-05 Issue:12 Volume:53 Page:e196-e199
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:

Author:

Labate Angelo,Tarantino Patrizia,Viri Maurizio,Mumoli Laura,Gagliardi Monica,Romeo Antonino,Zara Federico,Annesi Grazia,Gambardella Antonio

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.12009/fullpdf

Reference11 articles.

1. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy;Berkovic;Ann Neurol,2004

2. Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot;Cao;Parkinsonism Relat Disord,2012

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

4. Candidate gene studies of ADHD: a meta-analytic review;Gizer;Hum Genet,2009

5. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome;Heron;Am J Hum Genet,2012

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1. Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal;Seizure: European Journal of Epilepsy;2024-07

2. Long-term low-dose lamotrigine for paroxysmal kinesigenic dyskinesia: a two-year investigation of cognitive function in children;Frontiers in Psychiatry;2024-03-11

3. Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms;Neuroscience Bulletin;2023-12-13

4. Atassie episodiche;EMC - Neurologia;2023-12

5. Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels;Neurobiology of Disease;2023-07

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