Scott Demarest
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View article: Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome
Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome Open
Bardet-Biedl Syndrome (BBS) is a ciliopathy often associated with progressive blindness and obesity. A patient presenting with BBS was discovered to have two mutations within 55bp of each other in intron 7 of SDCCAG8 ( BBS16 ). One of the …
View article: Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study
Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study Open
Purpose CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Greater understanding of the smallest meaningful improvements for individuals with CDD in clinical trials and practice is needed for a person-cen…
View article: The natural history of CDKL5 deficiency disorder into adulthood
The natural history of CDKL5 deficiency disorder into adulthood Open
Knowledge of the natural history of CDKL5 deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical decision-making and future…
View article: Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for a Developmental and Epileptic Encephalopathy
Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for a Developmental and Epileptic Encephalopathy Open
View article: <i>SCN2A</i>-Related Disorders
<i>SCN2A</i>-Related Disorders Open
SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile…
View article: A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases Open
Individualized genetic therapies-medicines that precisely target a genetic variant that may only be found in a small number of individuals, as few as only one-offer promise for addressing unmet needs in genetic disease, but present unique …
View article: 4-Phenylbutyrate for STXBP1 and SLC6A1. Safety, tolerability, seizure, and EEG outcomes. A case series at 2 centers
4-Phenylbutyrate for STXBP1 and SLC6A1. Safety, tolerability, seizure, and EEG outcomes. A case series at 2 centers Open
Introduction Pathogenic mutations in STXBP1 and SLC6A1 can cause developmental delay and epilepsy. 4-phenylbutyrate (4PB), a drug used for urea cycle disorders, rescues dysfunction in pre-clinical models for both genes, suggesting an oppor…
View article: Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol
Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol Open
View article: Psychometric evaluation of clinician‐ and caregiver‐reported clinical severity assessments for individuals with <scp>CDKL5</scp> deficiency disorder
Psychometric evaluation of clinician‐ and caregiver‐reported clinical severity assessments for individuals with <span>CDKL5</span> deficiency disorder Open
Objective The CDKL5 Clinical Severity Assessment (CCSA) is a comprehensive, content‐validated measurement tool capturing the diverse challenges of cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD), a genetically caused devel…
View article: Prevalence of Cerebral Visual Impairment in Developmental and Epileptic Encephalopathies: a systematic review protocol
Prevalence of Cerebral Visual Impairment in Developmental and Epileptic Encephalopathies: a systematic review protocol Open
Background Developmental and Epileptic Encephalopathies (DEEs) are defined by drug-resistant seizures and neurodevelopmental disorders. Over 50% of patients have a genetic cause. Studies have shown that patients with DEEs, regardless of ge…
View article: P569: NextGen training of medical professionals for evolving genomic interventions
P569: NextGen training of medical professionals for evolving genomic interventions Open
Ongoing rapid expansion of molecular interventions has limited number of trained medical professionals to administer. Professionals need strong foundations in understanding genomic medicine as well as the ability to interpret technological…
View article: The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder
The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder Open
View article: Efficacy, safety, and tolerability of soticlestat as adjunctive therapy for the treatment of seizures in patients with Dup15q syndrome or CDKL5 deficiency disorder in an open-label signal-finding phase II study (ARCADE)
Efficacy, safety, and tolerability of soticlestat as adjunctive therapy for the treatment of seizures in patients with Dup15q syndrome or CDKL5 deficiency disorder in an open-label signal-finding phase II study (ARCADE) Open
Adjunctive soticlestat treatment was associated with a decrease in motor seizure frequency from baseline in patients with CDD and a decrease in all seizure frequency in both patient groups. Soticlestat treatment was associated with an incr…
View article: Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder
Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder Open
Introduction SLC6A1-related disorder is a genetic neurodevelopmental disorder that is caused by loss of function variants in the SLC6A1 gene. Solute Carrier Family 6 Member 1 ( SLC6A1 ) gene encodes for gamma-aminobutyric acid (GABA) trans…
View article: Analysis of electrocardiograms in individuals with <scp><i>CDKL5</i></scp> deficiency disorder
Analysis of electrocardiograms in individuals with <span><i>CDKL5</i></span> deficiency disorder Open
CDKL5 deficiency disorder (CDD) is an epileptic encephalopathy associated with medically refractory epilepsy. We sought to determine whether prolonged corrected QT interval (QTc) or other cardiac conduction abnormalities were seen in CDD i…
View article: Correction to: Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder
Correction to: Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder Open
View article: Quality of life beyond diagnosis in intellectual disability – Latent profiling
Quality of life beyond diagnosis in intellectual disability – Latent profiling Open
View article: International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder Open
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizu…
View article: Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)
Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand) Open
Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are nee…
View article: The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child
The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child Open
CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the dia…
View article: Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals
Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals Open
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is wide and clear correlations between variant type and clinical feat…
View article: <i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Open
Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation. DHDDS encodes for the catalytic subu…
View article: Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology
Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology Open
View article: Clinical Trial Design for Disease-Modifying Therapies for Genetic Epilepsies
Clinical Trial Design for Disease-Modifying Therapies for Genetic Epilepsies Open
View article: Precision Treatments in Epilepsy
Precision Treatments in Epilepsy Open
View article: 4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome
4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome Open
OBJECTIVES/GOALS: Epilepsy with myoclonic-atonic seizures (EMAS) is a childhood onset epilepsy disorder characterized by seizures with sudden loss of posture, or drop seizures. Our objective was to use short-read genome sequencing in 40 EM…
View article: Exploring quality of life in individuals with a severe genetic condition, CDKL5 Deficiency Disorder.
Exploring quality of life in individuals with a severe genetic condition, CDKL5 Deficiency Disorder. Open
The authors have removed this preprint from Research Square.
View article: Randomized Clinical Trial of<scp>First‐Line</scp>Genome Sequencing in Pediatric White Matter Disorders
Randomized Clinical Trial of<span>First‐Line</span>Genome Sequencing in Pediatric White Matter Disorders Open
Objective Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied. Methods A prospective time‐delayed crossover design trial of GS to assess the efficacy of GS as a first‐line …
View article: Current knowledge of SLC6A1-related neurodevelopmental disorders
Current knowledge of SLC6A1-related neurodevelopmental disorders Open
Advances in gene discovery have identified genetic variants in the solute carrier family 6 member 1 gene as a monogenic cause of neurodevelopmental disorders, including epilepsy with myoclonic atonic seizures, autism spectrum disorder and …
View article: Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition Open