Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy-Reference-Cited by-同舟云学术

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Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy

Published:2016-05 Issue:3 Volume:20 Page:454-456
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Maini Ilenia,Iodice Alessandro,Spagnoli Carlotta,Salerno Grazia Gabriella,Bertani Gianna,Frattini Daniele,Fusco Carlo

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference5 articles.

1. PRRT2 is mutated in familial and non-familial benign infantile seizures;Specchio;Eur J Pediatr Neurol,2013

2. PRRT2 mutations and paroxysmal disorders;Meneret;Eur J Neurol,2013

3. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy;Heron;J Med Genet,2013

4. Re-evaluation of PRRT2 mutations in paroxysmal disorders;Guo;J Neurol,2014

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

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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. Variable Phenotypes in the Same Patient with PRRT2-Associated Disorders;Journal of Pediatric Epilepsy;2024-05-15

3. Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study;International Journal of Molecular Sciences;2024-01-19

4. The Contribution of Argentine Neurologists to the Description of Infantile Epileptic Spasms Syndrome and Related Epileptic and Nonepileptic Neurological Conditions;Journal of Pediatric Epilepsy;2023-07-28

5. Genetic Movement Disorders Commonly Seen in Asians;Movement Disorders Clinical Practice;2023-05-08

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