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Cell Reports
|
June 1, 2024
Scanning mutagenesis of the voltage-gated sodium channel Na<sub>V</sub>1.2 using base editing
Juan Lorenzo B Pablo, Savannah L Cornett, Lei A Wang, et al.
Cell Reports
|
June 2, 2023
Scanning mutagenesis of the voltage-gated sodium channel Na<sub>V</sub>1.2 using base editing
Juan Lorenzo B Pablo, Savannah L Cornett, Lei A Wang, et al.
Human Molecular Genetics
|
April 13, 2022
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice
Dennis M Echevarria-Cooper, Nicole A Hawkins, Sunita N Misra, et al.
Brain : a Journal of Neurology
|
April 23, 2024
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders
Anne T Berg, Christopher H Thompson, Leah Schust Myers, et al.
Epilepsia
|
March 31, 2018
SCN1A variants associated with sudden infant death syndrome
Catherine A Brownstein, Richard D Goldstein, Christopher H Thompson, et al.
Brain : a Journal of Neurology
|
March 26, 2026
SCN2A variants are associated with familial and sporadic hemiplegic migraine
Florence Riant, Christopher H Thompson, Syed M A Wafa, et al.
Epilepsia
|
December 21, 2024
Rare dysfunctional SCN2A variants are associated with malformation of cortical development
Jérôme Clatot, Christopher H Thompson, Susan Sotardi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Lacey Smith, Emily Bonkowski, Anna Prentice, et al.
European Journal of Human Genetics : EJHG
|
December 14, 2023
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
Eleni Panagiotakaki, Francesco D Tiziano, Mohamad A Mikati, et al.
Annals of Neurology
|
June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
Tariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
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Showing results (31-40 of 40) with videos related to
Sort By:
Page
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This site can display upto 40 results.
Cell Reports
|
June 1, 2024
Scanning mutagenesis of the voltage-gated sodium channel Na<sub>V</sub>1.2 using base editing
Juan Lorenzo B Pablo, Savannah L Cornett, Lei A Wang, et al.
Cell Reports
|
June 2, 2023
Scanning mutagenesis of the voltage-gated sodium channel Na<sub>V</sub>1.2 using base editing
Juan Lorenzo B Pablo, Savannah L Cornett, Lei A Wang, et al.
Human Molecular Genetics
|
April 13, 2022
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice
Dennis M Echevarria-Cooper, Nicole A Hawkins, Sunita N Misra, et al.
Brain : a Journal of Neurology
|
April 23, 2024
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders
Anne T Berg, Christopher H Thompson, Leah Schust Myers, et al.
Epilepsia
|
March 31, 2018
SCN1A variants associated with sudden infant death syndrome
Catherine A Brownstein, Richard D Goldstein, Christopher H Thompson, et al.
Brain : a Journal of Neurology
|
March 26, 2026
SCN2A variants are associated with familial and sporadic hemiplegic migraine
Florence Riant, Christopher H Thompson, Syed M A Wafa, et al.
Epilepsia
|
December 21, 2024
Rare dysfunctional SCN2A variants are associated with malformation of cortical development
Jérôme Clatot, Christopher H Thompson, Susan Sotardi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Lacey Smith, Emily Bonkowski, Anna Prentice, et al.
European Journal of Human Genetics : EJHG
|
December 14, 2023
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
Eleni Panagiotakaki, Francesco D Tiziano, Mohamad A Mikati, et al.
Annals of Neurology
|
June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
Tariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
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of 4