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Epilepsy Research
|
January 8, 2026
Evaluation of epilepsy in 8p-related disorders
Megan Abbott, Katie Angione, Megan Stringfellow, et al.
Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence
|
November 27, 2025
Single-gene childhood developmental epileptic encephalopathies: a primer for pediatric neuropsychologists
Ashley L Nguyen-Martinez, Morgan Jolliffe, Lauren M Scimeca, et al.
Developmental Medicine and Child Neurology
|
July 13, 2022
Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms
Scott Demarest, Jeff Calhoun, Krista Eschbach, et al.
Clinical Genetics
|
October 10, 2024
Chromosome 8p Syndromes Clinical Presentation and Management Guidelines
Kourtney Santucci, Kristina E Malik, Katie Angione, et al.
American Journal of Human Genetics
|
May 26, 2026
Guidance on communication and informed consent with patients and their families for experimental individualized treatments
Annemieke Aartsma-Rus, Claudio M de Gusmao, Scott Demarest, 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.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome
Kelleen E McEntee, Bailey L McCurdy, Austin Larson, et al.
Neurobiology of Disease
|
August 20, 2019
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition
Elena Arystarkhova, Ihtsham U Haq, Timothy Luebbert, et al.
Epilepsia
|
November 11, 2023
Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up
Heather E Olson, Sam Amin, Nadia Bahi-Buisson, et al.
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|
July 4, 2024
Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study
Jacinta M Saldaris, Scott Demarest, Peter Jacoby, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 61) with videos related to
Sort By:
Page
of 7
Epilepsy Research
|
January 8, 2026
Evaluation of epilepsy in 8p-related disorders
Megan Abbott, Katie Angione, Megan Stringfellow, et al.
Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence
|
November 27, 2025
Single-gene childhood developmental epileptic encephalopathies: a primer for pediatric neuropsychologists
Ashley L Nguyen-Martinez, Morgan Jolliffe, Lauren M Scimeca, et al.
Developmental Medicine and Child Neurology
|
July 13, 2022
Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms
Scott Demarest, Jeff Calhoun, Krista Eschbach, et al.
Clinical Genetics
|
October 10, 2024
Chromosome 8p Syndromes Clinical Presentation and Management Guidelines
Kourtney Santucci, Kristina E Malik, Katie Angione, et al.
American Journal of Human Genetics
|
May 26, 2026
Guidance on communication and informed consent with patients and their families for experimental individualized treatments
Annemieke Aartsma-Rus, Claudio M de Gusmao, Scott Demarest, 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.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome
Kelleen E McEntee, Bailey L McCurdy, Austin Larson, et al.
Neurobiology of Disease
|
August 20, 2019
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition
Elena Arystarkhova, Ihtsham U Haq, Timothy Luebbert, et al.
Epilepsia
|
November 11, 2023
Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up
Heather E Olson, Sam Amin, Nadia Bahi-Buisson, et al.
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|
July 4, 2024
Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study
Jacinta M Saldaris, Scott Demarest, Peter Jacoby, et al.
Page
of 7