Eric D. Marsh
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View article: Cholinergic modulation of hippocampal CA1 pyramidal cell excitability in ArxGCG+7 mice
Cholinergic modulation of hippocampal CA1 pyramidal cell excitability in ArxGCG+7 mice Open
Developmental and Epileptic Encephalopathies (DEE) are rare neurodevelopmental disorders defined by seizures, developmental delays, and abnormal EEG patterns. Infantile Spasms Syndrome (ISS), the most common DEE, was one of the first linke…
View article: Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder
Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder Open
Background : CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy (DEE) associated with multiple impairments and comorbidities. Outcome measures for disease‐modifying clinical trials for DEEs should measurab…
View article: Can electrical stimulation replace spontaneous seizures in epilepsy surgery?
Can electrical stimulation replace spontaneous seizures in epilepsy surgery? Open
Seizures are often induced by electrical stimulation (stim seizures) during intracranial EEG (iEEG) evaluation for epilepsy surgery, but their value for localizing seizure generating tissue remains unclear. We compared 441 low-frequency (1…
View article: Content Validation of the Communication Inventory Disability–Observer Reported (CID-OR)
Content Validation of the Communication Inventory Disability–Observer Reported (CID-OR) Open
CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communica…
View article: Altered oscillatory coupling reflects possible inhibitory interneuron dysfunction in Rett syndrome
Altered oscillatory coupling reflects possible inhibitory interneuron dysfunction in Rett syndrome Open
Rett syndrome is a rare neurodevelopmental disorder caused primarily by pathogenic variants in the MECP2 gene, leading to lifelong cognitive impairments. To understand the broad neural disruptions in Rett syndrome, it is essential to exami…
View article: Symptom Onset in Classic Rett Syndrome: Analysis of Initial Clinical Severity Scale Entries
Symptom Onset in Classic Rett Syndrome: Analysis of Initial Clinical Severity Scale Entries Open
Objective We aim to assess the clinical features of Rett syndrome (RTT) at registration into the National Institutes of Health–sponsored natural history study (NHS) using the Clinical Severity Scale (CSS). Introduction The CSS was establis…
View article: Considerations and procedures for acquiring EEG as part of multi-site studies for Rett syndrome and other genetic neurodevelopmental disorders
Considerations and procedures for acquiring EEG as part of multi-site studies for Rett syndrome and other genetic neurodevelopmental disorders Open
There is increasing interest in the utility of electrophysiological measures such as resting EEG and evoked potential (EPs) to serve as biomarkers to facilitate therapeutic development for rare genetic neurodevelopmental disorders (NDDs). …
View article: Interictal spikes and evoked cortical potentials share common spatiotemporal constraints in human epilepsy
Interictal spikes and evoked cortical potentials share common spatiotemporal constraints in human epilepsy Open
Interictal epileptiform discharges (IEDs) are pathologic hallmarks of epilepsy which frequently arise and spread through networks of functionally-connected brain regions. Recent studies demonstrate that the sequential recruitment of brain …
View article: Multiple subpial transections with concomitant responsive neurostimulation of the insula: illustrative case
Multiple subpial transections with concomitant responsive neurostimulation of the insula: illustrative case Open
BACKGROUND Focal epilepsy arising from the eloquent cortex can be treated with palliative surgical interventions such as multiple subpial transection (MST) or responsive neurostimulation (RNS). These techniques can be performed to reduce t…
View article: Mapping the Epileptogenic Brain Using Low-Frequency Stimulation: Two Decades of Advances and Uncertainties
Mapping the Epileptogenic Brain Using Low-Frequency Stimulation: Two Decades of Advances and Uncertainties Open
Cortical stimulation is the process of delivering brief pulses of electrical current and visualizing the distributed pattern of evoked responses across the brain. Compared to high-frequency stimulation, which has long been used for seizure…
View article: Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2–4 years with Rett syndrome
Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2–4 years with Rett syndrome Open
The study was supported by Acadia Pharmaceuticals (San Diego, CA). This study was registered at ClinicalTrials.gov (NCT04988867).
View article: Functional Characterization of Parallel Fiber-Purkinje Cell Synapses in Two Friedreich’s Ataxia Mouse Models
Functional Characterization of Parallel Fiber-Purkinje Cell Synapses in Two Friedreich’s Ataxia Mouse Models Open
Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by GAA expansions in the FXN gene, which codes for the protein frataxin (FXN). These mutations reduce FXN expression, leading to mitochondrial dysfunction and multisystemic…
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: Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder Open
HK1 should be included in mitochondrial disorder gene sequencing panels.
View article: Co-activation of interictal epileptiform discharges localizes seizure onset zone and fluctuates with brain state
Co-activation of interictal epileptiform discharges localizes seizure onset zone and fluctuates with brain state Open
Seizures are increasingly understood as emergent phenomena of complex, pathophysiologic networks. Interictal spikes are ubiquitous markers of paroxysmal synchronization in the epileptic brain and have been shown to co-activate between brai…
View article: Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy
Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy Open
The recurrent pathogenic variant KCNC1-p.Ala421Val (A421V) is a cause of developmental and epileptic encephalopathy characterized by moderate-to-severe developmental delay/intellectual disability, and infantile-onset treatment-resistant ep…
View article: Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy
Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy Open
The recurrent pathogenic variant KCNC1-p.Ala421Val (A421V) is a cause of developmental and epileptic encephalopathy characterized by moderate-to-severe developmental delay/intellectual disability, and infantile-onset treatment-resistant ep…
View article: Impaired excitability of fast-spiking neurons in a novel mouse model of <i>KCNC1</i> epileptic encephalopathy
Impaired excitability of fast-spiking neurons in a novel mouse model of <i>KCNC1</i> epileptic encephalopathy Open
The recurrent pathogenic variant KCNC1 -p.Ala421Val (A421V) is a cause of developmental and epileptic encephalopathy characterized by moderate-to-severe developmental delay/intellectual disability, and infantile-onset treatment-resistant e…
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…