Heather E. Olson
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View article: Tiny Beads, Big Problems: Water Bead Ingestions—A Case Series
Tiny Beads, Big Problems: Water Bead Ingestions—A Case Series Open
Background: Water beads are estimated to have caused >8000 emergency department (ED) visits from 2017 to 2022. Lethality after ingestion has been reported. The literature to guide management is scarce. We aimed to characterize three notabl…
View article: Missense<i>ABI2</i>variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities
Missense<i>ABI2</i>variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities Open
The Abelson-interactor 2 gene ( ABI2) encodes a protein that functions as a regulator of Rac-dependent actin cytoskeleton dynamics, a highly coordinated structural framework essential for maintaining intracellular homeostasis and vital in …
View article: Metabolites, Lipids, Protein extraction protocol (MPLEx) v1
Metabolites, Lipids, Protein extraction protocol (MPLEx) v1 Open
This protocol describes a solvent-solvent extraction method to obtain Metabolites, Lipids and Proteins from the same sample. This method, termed MPLEx, can be used on a variety of samples including biofluids (e.g., bronchoalvolar lavage fl…
View article: Sample Preparation (Urea/trypsin digestion) for Proteomics - Mammalian Organisms v1
Sample Preparation (Urea/trypsin digestion) for Proteomics - Mammalian Organisms v1 Open
This procedure is to be used for preparation of peptide samples from proteins from mammalian samples. The peptide samples will be used for mass spectrometry based proteomic analysis.
View article: Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome
Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome Open
Background FOXG1 syndrome is a severe genetic neurodevelopmental disorder characterized by developmental and intellectual disabilities (DD/ID), postnatal microcephaly, epilepsy, and movement disorder. With the advent of molecular therapies…
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: <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: Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons
Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons Open
CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy resulting from variants in cyclin-dependent kinase-like 5 (CDKL5) that lead to impaired kinase activity or loss of function. CDD is one of the most common…
View article: Bipolar Disorder in a female with CDKL5 Deficiency Disorder: A Case Report
Bipolar Disorder in a female with CDKL5 Deficiency Disorder: A Case Report Open
Background: CDKL5 deficiency disorder (CDD) is an early-onset developmental and epileptic encephalopathy. While a subset of individuals is believed to experience comorbid behavioral disorders, none have reported well-defined affective diso…
View article: Deletions in the <i>CDKL5</i> 5′ untranslated region lead to CDKL5 deficiency disorder
Deletions in the <i>CDKL5</i> 5′ untranslated region lead to CDKL5 deficiency disorder Open
Pathogenic variants in the cyclin‐dependent kinase‐like 5 ( CDKL5 ) gene are associated with CDKL5 deficiency disorder (CDD), a severe X‐linked developmental and epileptic encephalopathy. Deletions affecting the 5′ untranslated region (UTR…
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: Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database
Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database Open
The study, leveraging a large sample size that exceeds that of previous research, emphasises the complex nature of seizure management in CDKL5 deficiency disorder. Our findings underscore the necessity of ongoing research to optimise treat…
View article: Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial
Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial Open
CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on…
View article: CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description
CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description Open
Loss of function variants in the Cyclin-dependent kinase-like 5 gene (CDKL5) causes CDKL5 deficiency disorder (CDD). Most cases of CDD are due to a de novo missense or truncating variants. The CDKL5 gene was discovered in 1998 as part of t…
View article: P208: Insights into diagnostic yield and novel genetic etiologies for unilateral polymicrogyria
P208: Insights into diagnostic yield and novel genetic etiologies for unilateral polymicrogyria Open
Polymicrogyria (PMG) is one of the more common malformations of human cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria is a subtype of polymicrogyria affecting only a porti…
View article: Long‐term treatment with ganaxolone for seizures associated with cyclin‐dependent kinase‐like 5 deficiency disorder: Two‐year open‐label extension follow‐up
Long‐term treatment with ganaxolone for seizures associated with cyclin‐dependent kinase‐like 5 deficiency disorder: Two‐year open‐label extension follow‐up Open
Objective In the placebo‐controlled, double‐blind phase of the Marigold study (NCT03572933), ganaxolone significantly reduced major motor seizure frequency (MMSF) in patients with cyclin‐dependent kinase‐like 5 deficiency disorder (CDD). W…
View article: <scp>CDKL5</scp> deficiency disorder and other infantile‐onset genetic epilepsies
<span>CDKL5</span> deficiency disorder and other infantile‐onset genetic epilepsies Open
Aim To differentiate phenotypic features of individuals with CDKL5 deficiency disorder (CDD) from those of individuals with other infantile‐onset epilepsies. Method We performed a retrospective cohort study and ascertained individuals with…
View article: Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria Open
Importance Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with oth…
View article: Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy Open
Importance Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, and counseling. Objective To delineate the genetic landscape of pediatr…
View article: Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first‐line therapies
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first‐line therapies Open
Objective We aimed to assess the treatment response of infantile‐onset epileptic spasms (ES) in CDKL5 deficiency disorder (CDD) vs other etiologies. Methods We evaluated patients with ES from the CDKL5 Centers of Excellence and the Nationa…
View article: Wide range of phenotypic severity in individuals with late truncations unique to the predominant <scp><i>CDKL5</i></scp> transcript in the brain
Wide range of phenotypic severity in individuals with late truncations unique to the predominant <span><i>CDKL5</i></span> transcript in the brain Open
Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is caused by heterozygous or hemizygous variants in CDKL5 and is characterized by refractory epilepsy, cognitive and motor impairments, and cerebral visual impairment. CDKL5 …