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Literature DB >> 29250726

Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.

Victoria Vlachou¹, Vivian Chu¹, Efterpi Pavlidou², Naila Ismayilova¹, Mankad Kshitij³, Maria Kinali⁴.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2017 PMID： 29250726 DOI： 10.1007/s12098-017-2568-x

Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967

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5 in total

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

Authors: Ilenia Maini; Alessandro Iodice; Carlotta Spagnoli; Grazia Gabriella Salerno; Gianna Bertani; Daniele Frattini; Carlo Fusco
Journal: Eur J Paediatr Neurol Date: 2016-02-02 Impact factor: 3.140

2. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

Authors: Anne T Berg; Samuel F Berkovic; Martin J Brodie; Jeffrey Buchhalter; J Helen Cross; Walter van Emde Boas; Jerome Engel; Jacqueline French; Tracy A Glauser; Gary W Mathern; Solomon L Moshé; Douglas Nordli; Perrine Plouin; Ingrid E Scheffer
Journal: Epilepsia Date: 2010-02-26 Impact factor: 5.864

Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.

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

2. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

Review 3. The evolving spectrum of PRRT2-associated paroxysmal diseases.

Review 4. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

5. Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.