Inga Talvik
YOU?
Author Swipe
View article: Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology
Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology Open
Background/Objectives: Drug-resistant epilepsy (DRE) is a significant health problem leading to cognitive impairment and reduced quality of life. This study aimed to in-vestigate the incidence and etiology of DRE in children in Estonia. Me…
View article: SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy Open
Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD), bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide association, colocalization, polygenic risk score, and pathway a…
View article: <i>SLCO5A1</i> and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy
<i>SLCO5A1</i> and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy Open
Introductory Paragraph Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD), bipolar disorder and epilepsy 1-5 . We performed a genome-wide association, colocalization and pathway analysis of impulsivi…
View article: Correction: The landscape of epilepsy-related GATOR1 variants
Correction: The landscape of epilepsy-related GATOR1 variants Open
View article: Correction to: The landscape of epilepsy-related GATOR1 variants
Correction to: The landscape of epilepsy-related GATOR1 variants Open
View article: The landscape of epilepsy-related GATOR1 variants
The landscape of epilepsy-related GATOR1 variants Open
View article: Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency Open
View article: Abstracts
Abstracts Open
Contains fulltext : 192035.pdf (Publisher’s version ) (Open Access)
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: Phenotypic spectrum of <i>GABRA1</i>
Phenotypic spectrum of <i>GABRA1</i> Open
GABRA1 mutations make a significant contribution to the genetic etiology of both benign and severe epilepsy syndromes. Myoclonic and tonic-clonic seizures with pathologic response to photic stimulation are common and shared features in bot…
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 …