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Showing results (231-240 of 270) with videos related to

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Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i>-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.
Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.
Nature Genetics|November 3, 2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesJulian Schubert, Aleksandra Siekierska, Mélanie Langlois, et al.
Brain : a Journal of Neurology|March 19, 2015
CHD2 variants are a risk factor for photosensitivity in epilepsyElizabeth C Galizia, Candace T Myers, Costin Leu, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Brain : a Journal of Neurology|February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individualsJulie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Neurology|February 10, 2019
Clinical spectrum of <i>STX1B</i>-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.
Nucleic Acids Research|December 2, 2020
The Human Phenotype Ontology in 2021Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, et al.
Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.
Pageof 27

Showing results (231-240 of 270) with videos related to

Sort By:
Pageof 27
Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i>-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.
Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.
Nature Genetics|November 3, 2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesJulian Schubert, Aleksandra Siekierska, Mélanie Langlois, et al.
Brain : a Journal of Neurology|March 19, 2015
CHD2 variants are a risk factor for photosensitivity in epilepsyElizabeth C Galizia, Candace T Myers, Costin Leu, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Brain : a Journal of Neurology|February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individualsJulie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Neurology|February 10, 2019
Clinical spectrum of <i>STX1B</i>-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.
Nucleic Acids Research|December 2, 2020
The Human Phenotype Ontology in 2021Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, et al.
Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.
Pageof 27