Christopher H. Thompson

The paper investigates functional properties of KCNH1 variants linked to neurodevelopmental disorders, finding most exhibit gain-of-function characteristics.

This study investigates how ATP1A3 dysfunction affects neuronal excitability and development in human neurons linked to alternating hemiplegia of childhood.

This study creates a mouse model of SCN2A-related DEE and shows it exhibits neuronal hyperexcitability, seizure susceptibility, and responsiveness to phenytoin.

The paper investigates four SCN1A variants affecting the same codon, finding mixed and complete loss-of-function effects, suggesting functional diversity beyond codon position.

This study examines how alternative splicing and cellular context affect the functional properties of SCN8A variants associated with neurodevelopmental disorders.

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

This paper generates a Kcnb1R306C mouse model to study the effects of a voltage-sensing mutation in KCNB1, finding altered neurological and neurobehavioral phenotypes.

The paper assesses functional properties of SCN2A variants using automated patch clamp recording, revealing complex gain- and loss-of-function patterns beyond a simple binary classification.

This paper investigates the effects of the SCN2A p.K1422E variant in mice, showing mixed functional and behavioral impacts on neurons and neurodevelopmental phenotypes.

The paper identifies cryptic prokaryotic promoters causing instability of human NaV channel cDNA in bacteria and presents stabilized plasmids for functional expression.

The paper evaluates a novel SCN2A variant linked to early-onset epilepsy, showing it causes gain-of-function effects and responds to carbamazepine.