Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G

Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively

Published:2020-05-28 Issue:05 Volume:51 Page:375-376
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

von Stülpnagel Celina¹²,Hofmeister Benedikt³⁴,Berweck Steffen³⁵,Kluger Gerhard¹⁵,Weber Peter⁶

Affiliation:

1. Institute for Transition, Rehabilitation and Palliation, Paracelsus Private Medical University of Salzburg, Salzburg, Austria

2. Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Comprehensive Epilepsy Program for Children, University Hospital Munich, LMU Munich, Germany

3. Ludwig Maximilian University of Munich, Munich, Germany

4. Hospital for Gastroenterology, Hepatology and Gastroenterological Oncology, Hospital Bogenhausen, Munich Germany

5. Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Vogtareuth, Germany

6. Department of Neuropediatrics and Developmental Pediatrics, University Children's Hospital Basel, Basel, Switzerland

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1712486.pdf

Reference2 articles.

1. Cooccurrence of two different genetic diseases: a case of valproic acid hepatotoxicity in Nicolaides-Baraitser syndrome (SMARCA2 mutation)-due to a POLG1-related effect?;B Hofmeister;Neuropediatrics,2020

2. Phenotype and genotype in Nicolaides-Baraitser syndrome;S B Sousa;Am J Med Genet C Semin Med Genet,2014