Search research articles
Contact Us
Filters
Showing results (1-10 of 10) with videos related to
Page
of 1
Sort By:
Epilepsia
|
March 12, 2024
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism
Kimberly Wiltrout, Elise Brimble, Annapurna Poduri
Genes
|
November 27, 2024
CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype
Ivan Ruiz, Kimberly Wiltrout, Coral Stredny, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene, <i>SLC6A1</i>
Christopher Michael McGraw, Guoqi Zhang, Gillian Prinzing, et al.
Frontiers in Neurology
|
March 2, 2026
Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research
Carole Bakhos, Christal G Delagrammatikas, Scott Demarest, et al.
Annals of Clinical and Translational Neurology
|
May 7, 2024
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome
Shyam K Akula, Vicente Quiroz, Alissa M D'Gama, et al.
European Journal of Human Genetics : EJHG
|
April 13, 2019
Variants in DOCK3 cause developmental delay and hypotonia
Kimberly Wiltrout, Alejandro Ferrer, Ingrid van de Laar, et al.
NPJ Genomic Medicine
|
April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Ali AlMail, Ahmed Jamjoom, Amy Pan, et al.
Genome Medicine
|
July 2, 2026
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction
Yi Liang, Rodrigo Ormazabal-Toledo, Harini Srinivasan, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 31, 2024
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Nour Elkhateeb, Renarta Crookes, Michael Spiller, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Epilepsia
|
March 12, 2024
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism
Kimberly Wiltrout, Elise Brimble, Annapurna Poduri
Genes
|
November 27, 2024
CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype
Ivan Ruiz, Kimberly Wiltrout, Coral Stredny, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene, <i>SLC6A1</i>
Christopher Michael McGraw, Guoqi Zhang, Gillian Prinzing, et al.
Frontiers in Neurology
|
March 2, 2026
Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research
Carole Bakhos, Christal G Delagrammatikas, Scott Demarest, et al.
Annals of Clinical and Translational Neurology
|
May 7, 2024
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome
Shyam K Akula, Vicente Quiroz, Alissa M D'Gama, et al.
European Journal of Human Genetics : EJHG
|
April 13, 2019
Variants in DOCK3 cause developmental delay and hypotonia
Kimberly Wiltrout, Alejandro Ferrer, Ingrid van de Laar, et al.
NPJ Genomic Medicine
|
April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Ali AlMail, Ahmed Jamjoom, Amy Pan, et al.
Genome Medicine
|
July 2, 2026
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction
Yi Liang, Rodrigo Ormazabal-Toledo, Harini Srinivasan, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 31, 2024
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Nour Elkhateeb, Renarta Crookes, Michael Spiller, et al.
Page
of 1