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Epilepsia
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January 21, 2020
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort
Anne Rochtus, Heather E Olson, Lacey Smith, 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.
The Lancet. Neurology
|
April 16, 2022
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial
Elia M Pestana Knight, Sam Amin, Nadia Bahi-Buisson, et al.
Brain and Behavior
|
November 14, 2025
Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder
Peter Jacoby, Eric D Marsh, Scott Demarest, et al.
Pediatric Neurology
|
November 20, 2022
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies
Isabel Haviland, Carolyn I Daniels, Caitlin A Greene, et al.
Journal of Child Neurology
|
August 11, 2021
Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder
Jacinta Saldaris, Judith Weisenberg, Elia Pestana-Knight, et al.
Stem Cell Research
|
March 13, 2021
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD)
Pin-Fang Chen, Teresa Chen, Taylor E Forman, et al.
Epilepsia
|
August 27, 2024
Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder
Jacinta M Saldaris, Peter Jacoby, Jenny Downs, et al.
American Journal of Medical Genetics. Part A
|
June 11, 2016
BRAT1 mutations present with a spectrum of clinical severity
Siddharth Srivastava, Heather E Olson, Julie S Cohen, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 50) with videos related to
Sort By:
Page
of 5
Epilepsia
|
January 21, 2020
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort
Anne Rochtus, Heather E Olson, Lacey Smith, 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.
The Lancet. Neurology
|
April 16, 2022
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial
Elia M Pestana Knight, Sam Amin, Nadia Bahi-Buisson, et al.
Brain and Behavior
|
November 14, 2025
Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder
Peter Jacoby, Eric D Marsh, Scott Demarest, et al.
Pediatric Neurology
|
November 20, 2022
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies
Isabel Haviland, Carolyn I Daniels, Caitlin A Greene, et al.
Journal of Child Neurology
|
August 11, 2021
Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder
Jacinta Saldaris, Judith Weisenberg, Elia Pestana-Knight, et al.
Stem Cell Research
|
March 13, 2021
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD)
Pin-Fang Chen, Teresa Chen, Taylor E Forman, et al.
Epilepsia
|
August 27, 2024
Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder
Jacinta M Saldaris, Peter Jacoby, Jenny Downs, et al.
American Journal of Medical Genetics. Part A
|
June 11, 2016
BRAT1 mutations present with a spectrum of clinical severity
Siddharth Srivastava, Heather E Olson, Julie S Cohen, et al.
Page
of 5