Annapurna Poduri

CAMSAP3 loss of function models suggest causative role in generalized genetic epilepsy

The paper shows that CAMSAP3 loss of function leads to microtubule acetylation dysregulation and epileptic features in zebrafish and cultured cells.

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity

The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

Disrupted O-GalNAc glycosylation as a mechanism and biomarker of SLC35A2-associated epilepsy

This study identifies disrupted O-GalNAc glycosylation as a mechanism and biomarker for SLC35A2-associated epilepsy using mouse models and human tissue analysis.

Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy

This study identifies somatic Ras-MAPK pathway variants in hippocampal tissue from patients with drug-resistant epilepsy, showing their association with clonal competition and worse surgical outcomes.

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

This study analyzes 42 de novo CACNA1A missense variants in neurodevelopmental disorders, finding most alter channel function and correlate with clinical outcomes.

Early death and neuronal abnormalities in depdc5 loss-of-function mosaic zebrafish models

This study generates mosaic depdc5 loss-of-function zebrafish models to study DEPDC5-related epilepsy and early death, finding increased seizure-like behavior and neuronal hyperexcitability.

High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene, SLC6A1

The paper develops a high-content fluorescence imaging assay to assess GABA transporter function in SLC6A1 variants, showing strong correlation with radioactive assays and potential for high-throughput screening.

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

This study uses snRNA-seq and a new method called GO-TEN to analyze mosaic genetic variants in focal cortical dysplasia, revealing cell-autonomous and non-cell-autonomous transcriptional changes associated with epilepsy.

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders

The paper analyzes 11,125 trio exomes to explore the relationship between genetic variants and phenotypic features in neurodevelopmental disorders, finding significant clinical similarities and phenotypic gradients.

Enhanced proconvulsant sensitivity, not spontaneous rapid swimming activity, is a robust correlate of scn1lab loss-of-function in stable mutant and F0 crispant hypopigmented zebrafish expressing GCaMP6s

The paper evaluates scn1lab loss-of-function in zebrafish using calcium and movement data, finding enhanced proconvulsant sensitivity as a reliable indicator despite suppressive effects from genetic background and pigmentation.

Machine learning enables high-throughput, low-replicate screening for novel anti-seizure targets and compounds using combined movement and calcium fluorescence in larval zebrafish

This paper develops a machine learning method combining movement and calcium fluorescence data to detect seizure-like activity in zebrafish, enabling high-throughput, low-replicate screening of anti-seizure compounds.

Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability

The paper generates zebrafish models of candidate human epilepsy genes and identifies five genes associated with seizure-like behavior and hyperexcitability.

De novo HDAC3 variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorder

This study identifies de novo HDAC3 variants in patients with neurodevelopmental disorders and shows they cause reduced HDAC activity, disrupted protein interactions, and impaired nuclear localization.

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.

Mosaic and non-mosaic pcdh19 mutation leads to neuronal hyperexcitability in zebrafish

This study shows that both mosaic and non-mosaic pcdh19 mutations in zebrafish lead to neuronal hyperexcitability, challenging the idea that mosaicism alone causes PCDH19-related epilepsy.

Molecular map of GNAO1-related disease phenotypes and reactions to therapy

This paper models GNAO1 mutations' effects on GPCR signaling to explain disease phenotypes and therapy responses in neurological disorders.

The role of sodium channels in sudden unexpected death in pediatrics

This study identifies pathogenic sodium channel variants in SUDP patients and shows they cluster at conserved amino acid sites across the SCN gene family.

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.

Modeling and treating GRIN2A developmental and epileptic encephalopathy in mice

This study models GRIN2A-related DEE in mice, identifies seizure and behavioral abnormalities, and evaluates treatment strategies.

De novo Variants In Neurodevelopmental Disorders With Epilepsy

The paper identifies de novo variants in neurodevelopmental disorders with epilepsy and finds associations with specific genes and clinical features.