Cornelia Betzler

Salzburg, Austria

Last Updated: 09/26/2026

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Found 9 publications

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.

Journal: EBioMedicine

Published: June 01, 2023

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Journal: Brain : a journal of neurology

Published: March 12, 2021

Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.

Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.

Journal: Neuropediatrics

Published: February 12, 2021

Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.

Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: April 25, 2020

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 01, 2020

Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.

Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.

Journal: Nephron

Published: June 24, 2019

Unresponsive Wakefulness Syndrome in Children after Near-Drowning: Long-Term Outcome and Impact on the Families.

Unresponsive Wakefulness Syndrome in Children after Near-Drowning: Long-Term Outcome and Impact on the Families.

Journal: Neuropediatrics

Published: December 21, 2018

CAD mutations and uridine-responsive epileptic encephalopathy.

CAD mutations and uridine-responsive epileptic encephalopathy.

Journal: Brain : a journal of neurology

Published: July 04, 2016

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Journal: Neurology

Published: May 12, 2016

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Last Updated: 09/26/2026