Ulvi Vaher
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View article: Auditory Mismatch Response to Pitch and Duration Changes in Children with Developmental Language Disorder: A Longitudinal Approach
Auditory Mismatch Response to Pitch and Duration Changes in Children with Developmental Language Disorder: A Longitudinal Approach Open
View article: General ability and specific cognitive functions are lower in children with epilepsy after perinatal ischemic stroke
General ability and specific cognitive functions are lower in children with epilepsy after perinatal ischemic stroke Open
Introduction Epilepsy develops in one third of children after perinatal stroke. Both epilepsy and stroke may be risk factors for impaired cognitive abilities. How the development of epilepsy is related to the cognitive profile of children …
View article: The thalamus and basal ganglia are smaller in children with epilepsy after perinatal stroke
The thalamus and basal ganglia are smaller in children with epilepsy after perinatal stroke Open
Background Epilepsy is one of the most serious consequences of perinatal stroke. Epilepsy itself has been proposed as a risk factor for impaired cognitive, language, and behavioral functioning. It is still unclear which children develop ep…
View article: Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations Open
View article: Structural mapping of <i>GABRB3</i> variants reveals genotype-phenotype correlations
Structural mapping of <i>GABRB3</i> variants reveals genotype-phenotype correlations Open
Purpose Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability. In the present study…
View article: Mutations in <i>GABRB3</i>
Mutations in <i>GABRB3</i> Open
Our results indicate that GABRB3 mutations are associated with a broad phenotypic spectrum of epilepsies and that reduced receptor function causing GABAergic disinhibition represents the relevant disease mechanism.
View article: Subject Index Vol. 7, No. 4, 2016
Subject Index Vol. 7, No. 4, 2016 Open
View article: Author Index Vol. 7, No. 4, 2016
Author Index Vol. 7, No. 4, 2016 Open
View article: Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies Open
In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic e…
View article: Title Page / Table of Contents
Title Page / Table of Contents Open
View article: Clinical Phenotype of De Novo <i>GNAO1</i> Mutation
Clinical Phenotype of De Novo <i>GNAO1</i> Mutation Open
Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O ( GNAO1) gene have recently been described in 6 patients with early infantile epileptic encephalopathies. In the present study, we report …