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Simona Balestrini

Showing results (101-110 of 119) with videos related to

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Epilepsia Open|August 24, 2019
Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsyKatri Silvennoinen, Nikola de Lange, Sara Zagaglia, et al.
Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.
Ebiomedicine|October 27, 2015
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in EpilepsyCostin Leu, Simona Balestrini, Bridget Maher, et al.
Medrxiv : the Preprint Server for Health Sciences|September 10, 2024
Children and Adolescent Patients with Variants in the <i>ATP1A3</i> -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node DysfunctionMeredith K Srour, Minu-Tshyeto K Bidzimou, Padmapriya Muralidharan, et al.
Journal of Medical Genetics|July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyIris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Brain : a Journal of Neurology|October 21, 2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathiesSilvia Masnada, Ulrike B S Hedrich, Elena Gardella, et al.
JAMA Pediatrics|March 3, 2025
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular ArrhythmiasMary E Moya-Mendez, Minu-Tshyeto Bidzimou, Padmapriya Muralidharan, et al.
Neurology|November 11, 2018
Neurologic phenotypes associated with <i>COL4A1</i>/<i>2</i> mutations: Expanding the spectrum of diseaseSara Zagaglia, Christina Selch, Jelena Radic Nisevic, et al.
Neurology|February 10, 2019
Clinical spectrum of <i>STX1B</i>-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.
Pageof 12

Showing results (101-110 of 119) with videos related to

Sort By:
Pageof 12
Epilepsia Open|August 24, 2019
Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsyKatri Silvennoinen, Nikola de Lange, Sara Zagaglia, et al.
Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.
Ebiomedicine|October 27, 2015
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in EpilepsyCostin Leu, Simona Balestrini, Bridget Maher, et al.
Medrxiv : the Preprint Server for Health Sciences|September 10, 2024
Children and Adolescent Patients with Variants in the <i>ATP1A3</i> -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node DysfunctionMeredith K Srour, Minu-Tshyeto K Bidzimou, Padmapriya Muralidharan, et al.
Journal of Medical Genetics|July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyIris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Brain : a Journal of Neurology|October 21, 2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathiesSilvia Masnada, Ulrike B S Hedrich, Elena Gardella, et al.
JAMA Pediatrics|March 3, 2025
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular ArrhythmiasMary E Moya-Mendez, Minu-Tshyeto Bidzimou, Padmapriya Muralidharan, et al.
Neurology|November 11, 2018
Neurologic phenotypes associated with <i>COL4A1</i>/<i>2</i> mutations: Expanding the spectrum of diseaseSara Zagaglia, Christina Selch, Jelena Radic Nisevic, et al.
Neurology|February 10, 2019
Clinical spectrum of <i>STX1B</i>-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.
Pageof 12