J Gordon Millichap

Epilepsy-associated SCN2A (Nav1.2) Variants Exhibit Diverse and Complex Functional Properties

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.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

Determining pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

Impaired M-current in KCNQ2 Encephalopathy Evokes Dyshomeostatic Modulation of Excitability

This study investigates how KCNQ2 mutations affect neuronal excitability in patient-derived neurons, finding progressive hyperexcitability and altered firing patterns linked to impaired M-current.

Functional and Pharmacological Evaluation of a Novel SCN2A Variant Linked to Early-onset Epilepsy

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

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.