Chaseley E. McKenzie
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View article: <i>HCN2</i>‐Associated Neurodevelopmental Disorders: Data from Patients and <i>Xenopus</i> Cell Models
<i>HCN2</i>‐Associated Neurodevelopmental Disorders: Data from Patients and <i>Xenopus</i> Cell Models Open
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2 , encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated…
View article: Different fluorescent labels report distinct components of spHCN channel voltage sensor movement
Different fluorescent labels report distinct components of spHCN channel voltage sensor movement Open
We used voltage clamp fluorometry to probe the movement of the S4 helix in the voltage-sensing domain of the sea urchin HCN channel (spHCN) expressed in Xenopus oocytes. We obtained markedly different fluorescence responses with either ALE…
View article: Mono and biallelic variants in<i>HCN2</i>cause severe neurodevelopmental disorders
Mono and biallelic variants in<i>HCN2</i>cause severe neurodevelopmental disorders Open
Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy.…
View article: Different fluorescent labels report distinct components of spHCN channel voltage sensor movement
Different fluorescent labels report distinct components of spHCN channel voltage sensor movement Open
Voltage clamp fluorometry was used to probe the S4 helix movement in the voltage sensing domain of the sea urchin HCN channel expressed in Xenopus oocytes. Markedly different fluorescence responses were obtained with either ALEXA-488 or MT…
View article: A precision medicine approach for<i>HCN1</i>Developmental and Epileptic Encephalopathy
A precision medicine approach for<i>HCN1</i>Developmental and Epileptic Encephalopathy Open
Pathogenic variants in HCN1 causing cation leak result in a severe developmental and epileptic encephalopathy (DEE). Current treatment options for patients with HCN1 -DEE are limited and are insufficient to fully address both the seizures …
View article: Atenolol reduces cardiac-mediated mortality in genetic mouse model of sudden unexpected death in epilepsy
Atenolol reduces cardiac-mediated mortality in genetic mouse model of sudden unexpected death in epilepsy Open
Sudden Unexpected Death in Epilepsy (SUDEP) is the leading cause of premature mortality in epilepsy. Genetic cardiac risk factors, including loss-of-function KCNH2 variants, have been linked to SUDEP. We hypothesised that seizures and LQTS…
View article: Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40 Open
Stuttering is a common speech disorder that interrupts speech fluency and tends to cluster in families. Typically, stuttering is characterized by speech sounds, words or syllables which may be repeated or prolonged and speech that may be f…
View article: Antidepressant-like activity of a brain penetrant HCN channel inhibitor in mice
Antidepressant-like activity of a brain penetrant HCN channel inhibitor in mice Open
Changes in Hyperpolarization-Activated Cyclic Nucleotide-Gated (HCN) channel function have been linked to depressive-like traits, making them potential drug targets. However, there is currently no peer-reviewed data supporting the use of a…
View article: Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy
Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy Open
Pathogenic variants in HCN1 are associated with a range of epilepsy syndromes including a developmental and epileptic encephalopathy. The recurrent de novo HCN1 pathogenic variant (M305L) results in a cation leak, allowing the flux of exci…
View article: Cation leak: a common functional defect causing <i>HCN1</i> developmental and epileptic encephalopathy
Cation leak: a common functional defect causing <i>HCN1</i> developmental and epileptic encephalopathy Open
Pathogenic variants in HCN1 are an established cause of developmental and epileptic encephalopathy (DEE). To date, the stratification of patients with HCN1-DEE based on the biophysical consequence on channel function of a given variant has…
View article: Efficacy of antiseizure medication in a mouse model of <i>HCN1</i> developmental and epileptic encephalopathy
Efficacy of antiseizure medication in a mouse model of <i>HCN1</i> developmental and epileptic encephalopathy Open
Acquisition of drug‐sensitivity profiles is challenging in rare epilepsies. Anecdotal evidence suggests that antiseizure medications that block sodium channels as their primary mechanism of action exacerbate seizures in HCN1 developmental …
View article: Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report
Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report Open
Variants in HCN1 are associated with a range of epilepsy syndromes including developmental and epileptic encephalopathies. Here we describe a child harboring a novel de novo HCN1 variant, E246A, in a child with epilepsy and mild developmen…
View article: Loss‐of‐function variants in K<sub>v</sub>11.1 cardiac channels as a biomarker for SUDEP
Loss‐of‐function variants in K<sub>v</sub>11.1 cardiac channels as a biomarker for SUDEP Open
Objective To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss‐of‐function KCNH2 var…
View article: Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy Open
Pathogenic variants in HCN1 are associated with developmental and epileptic encephalopathies. The recurrent de novo HCN1 M305L pathogenic variant is associated with severe developmental impairment and drug-resistant epilepsy. We engineered…
View article: Loss-of-function variants in the cardiac K<sub>v</sub>11.1 channel as a genetic biomarker for SUDEP
Loss-of-function variants in the cardiac K<sub>v</sub>11.1 channel as a genetic biomarker for SUDEP Open
Objective To compare the frequency and impact on channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss-of-function KCNH2 variant…