Publications by authors named "Inga Talvik"

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SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.
Delnaz Roshandel, Eric J Sanders, Amy Shakeshaft, Naim Panjwani, Fan Lin, Inga Talvik

NPJ Genom Med· September 2023

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The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.
Siiri Sarv, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Kai Muru, Inga Talvik

Front Genet· December 2021

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Trait impulsivity in Juvenile Myoclonic Epilepsy.
Amy Shakeshaft, Naim Panjwani, Robert McDowall, Holly Crudgington, Javier Peña Ceballos, Inga Talvik

Ann Clin Transl Neurol· January 2021

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Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
David B Beck, Mohammed A Basar, Anthony J Asmar, Joyce J Thompson, Hirotsugu Oda, Inga Talvik

Sci Adv· January 2021

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Correction: The landscape of epilepsy-related GATOR1 variants.
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Inga Talvik

Genet Med· August 2019

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Correction to: The landscape of epilepsy-related GATOR1 variants.
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Inga Talvik

Genet Med· July 2019

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The landscape of epilepsy-related GATOR1 variants.
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Inga Talvik

Genet Med· February 2019

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Long-term neurodevelopmental outcome after perinatal arterial ischemic stroke and periventricular venous infarction.
Silva Lõo, Pilvi Ilves, Mairi Männamaa, Rael Laugesaar, Dagmar Loorits, Inga Talvik, Tiina Talvik

Eur J Paediatr Neurol· November 2018

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Incidence of Childhood Epilepsy in Estonia.
Kadi Veri, Inga Talvik, Ulvi Vaher, Aita Napa, Pilvi Ilves, Tiina Talvik

J Child Neurol· August 2018

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Epilepsy after perinatal stroke with different vascular subtypes.
Rael Laugesaar, Ulvi Vaher, Silva Lõo, Anneli Kolk, Mairi Männamaa, Inga Talvik, Tiina Talvik

Epilepsia Open· June 2018

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Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Inga Talvik

Mol Genet Metab Rep· June 2018

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Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F Hoffmann, Inga Talvik

Eur J Hum Genet· March 2018

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Resting-State Functional Connectivity and Cognitive Impairment in Children with Perinatal Stroke.
Nigul Ilves, Pilvi Ilves, Rael Laugesaar, Julius Juurmaa, Mairi Männamaa, Inga Talvik, Tiina Talvik

Neural Plast· October 2017

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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Rikke S Møller, Thomas V Wuttke, Ingo Helbig, Carla Marini, Katrine M Johannesen, Inga Talvik, Tiina Talvik

Neurology· January 2017

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CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.
Stella Lilles, Inga Talvik, Klari Noormets, Ulvi Vaher, Katrin Õunap, Tiina Talvik

Neuropediatrics· December 2016

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Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Katrine Johannesen, Carla Marini, Siona Pfeffer, Rikke S Møller, Thomas Dorn, Inga Talvik, Tiina Talvik

Neurology· September 2016

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Rikke S Møller, Line H G Larsen, Katrine M Johannesen, Inga Talvik, Tiina Talvik

Mol Syndromol· September 2016

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Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Karit Reinson, Eve Õiglane-Shlik, Inga Talvik, Ulvi Vaher, Anne Õunapuu

Am J Med Genet A· August 2016

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Presumed Perinatal Stroke: Risk Factors, Clinical and Radiological Findings.
Pilvi Ilves, Rael Laugesaar, Dagmar Loorits, Anneli Kolk, Tiiu Tomberg, Inga Talvik, Tiina Talvik

J Child Neurol· April 2016

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De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.
Sander Pajusalu, Tiia Reimand, Oivi Uibo, Maire Vasar, Inga Talvik

Eur J Med Genet· March 2016

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De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.
Sander Pajusalu, Inga Talvik, Klari Noormets, Tiina Talvik, Haide Põder

Neuromuscul Disord· March 2016

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Clinical Phenotype of De Novo Mutation: Case Report and Review of Literature.
Inga Talvik, Rikke S Møller, Merilin Vaher, Ulvi Vaher, Line Hg Larsen, Tiina Talvik

Child Neurol Open· May 2015

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Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
Olga Zilina, Tiina Kahre, Inga Talvik, Eve Oiglane-Shlik, Vallo Tillmann

Eur J Med Genet· February 2015

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De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Ulvi Vaher, Margit Nõukas, Tiit Nikopensius, Mart Kals, Tarmo Annilo, Inga Talvik, Tiina Talvik

J Child Neurol· December 2014

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Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.
Eve Õiglane-Shlik, Sanna Puusepp, Inga Talvik, Ulvi Vaher, Reet Rein

Eur J Paediatr Neurol· May 2014

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