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List of works by Annapurna Poduri

A Model Program for Translational Medicine in Epilepsy Genetics.

scientific article published on 6 January 2017

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 10 April 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 01 October 2018

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

scientific article published on 16 May 2019

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

scientific article published on 29 November 2017

A channel for precision diagnosis and treatment in genetic epilepsy

scientific article published on 01 September 2014

A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood

scientific article published on 08 July 2020

A distinct asymmetrical pattern of cortical malformation: large unilateral malformation of cortical development with contralateral periventricular nodular heterotopia in three pediatric cases

scientific article published in August 2005

A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.

scientific article published on 20 December 2017

A randomized controlled trial of levodopa in patients with Angelman syndrome.

scientific article published on 25 September 2017

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.

scientific article published on 18 January 2018

Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia ⬇️

scientific article published on March 23, 2012

Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis

scientific article

An Open-Source Husbandry Repository

scientific article published on 05 September 2018

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

scientific article published on 23 December 2019

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration

scientific article published on 04 January 2021

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

scientific article published on 23 February 2020

Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort

scientific article

Cerebral Volumetric Analysis Over Time in Children With Malformations of Cortical Development: A Quantitative Investigation ⬇️

scientific article published on December 28, 2010

Characterization of the GABRB2 associated neurodevelopmental disorders

scientific article published on 15 December 2020

Children's rare disease cohorts: an integrative research and clinical genomics initiative

scientific article published on 06 July 2020

Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice

scientific article published on 01 September 2019

Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?

scientific article

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

scientific article published in December 2017

Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis.

scientific article published on 23 August 2013

Clobazam: Effect on Frequency of Seizures and Safety Profile in Different Subgroups of Children With Epilepsy

scientific article published on 16 January 2014

Comparison of Drug Utilization Patterns in Observational Data: Antiepileptic Drugs in Pediatric Patients

scientific article

Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies

scientific article published on 01 February 2017

Copy number variation plays an important role in clinical epilepsy

scientific article published on 13 June 2014

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish

scientific article published on 14 July 2016

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

DEPDC5 does it all: shared genetics for diverse epilepsy syndromes

scientific article published on 08 May 2014

Dacrystic seizures: demographic, semiologic, and etiologic insights from a multicenter study in long-term video-EEG monitoring units.

scientific article published on 10 July 2012

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

scientific article published on 15 September 2017

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria

scientific article published on 21 October 2016

De novo GABRG2 mutations associated with epileptic encephalopathies.

scientific article published on 17 November 2016

De novo Variants In Neurodevelopmental Disorders With Epilepsy

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

scientific article

De novo mutations in epileptic encephalopathies

scientific article

De novo variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms

scientific article published on 26 March 2018

Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study

scientific article published on 04 January 2019

Disorders of Microtubule Function in Neurons: Imaging Correlates

scientific article published on 12 November 2015

Does albendazole affect seizure remission and computed tomography response in children with neurocysticercosis? A Systematic review and meta-analysis

scientific article published on February 2007

Duplication 2p16 is associated with perisylvian polymicrogyria

scientific article published on 29 October 2019

Effectiveness of once-daily high-dose ACTH for infantile spasms

scientific article published on 13 April 2016

Electrode localization for planning surgical resection of the epileptogenic zone in pediatric epilepsy

scientific article published on 23 June 2013

Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force

scientific article published on 16 April 2020

Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions

scientific article published on 22 January 2020

Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression

scientific article published on 15 January 2020

Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects

scientific article published on 22 January 2020

Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across the Life Span

scientific article published on 23 January 2020

Epilepsy genetics—past, present, and future ⬇️

scientific article published on January 27, 2011

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

scientific article

Expect the unexpected in epilepsy genetics: Mutations in an epilepsy gene considered to be benign result in a severe phenotype ⬇️

scientific article published on 01 January 2012

Experience with rufinamide in a pediatric population: a single center's experience.

scientific article published on September 2010

Experiencing Positive Health, as a Family, While Living With a Rare Complex Disease: Bringing Participatory Medicine Through Collaborative Decision Making Into the Real World

scientific article published on 22 June 2020

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

scientific article

Focal cortical dysplasia is more common in boys than in girls ⬇️

scientific article published on February 13, 2013

Focal cortical malformations can show asymmetrically higher uptake on interictal fluorine-18 fluorodeoxyglucose positron emission tomography (PET).

scientific article

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

article

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

scientific article published on 17 March 2020

Gene tests in adults with epilepsy and intellectual disability

scientific article published on 02 July 2020

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

scientific article

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

scientific article published on 19 January 2020

Genetic forms of epilepsies and other paroxysmal disorders

scientific article published on July 2014

Genetic testing in the epilepsies-developments and dilemmas

scientific article

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

scientific article published on 30 January 2017

HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy

scientific article published on November 2014

HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion.

scientific article published in April 2018

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

scientific article published on 01 October 2019

High-throughput brain activity mapping and machine learning as a foundation for systems neuropharmacology

scientific article published in Nature Communications

Hippocampal asymmetry and sudden unexpected death in infancy: a case report ⬇️

scientific article published on August 4, 2012

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

scientific article

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation

scientific article published on 07 May 2018

Inheritance of febrile seizures in sudden unexplained death in toddlers

scientific article

Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments

scientific article published on 27 July 2019

Juvenile myoclonic epilepsy and narcolepsy: A series of three cases

scientific article published on 14 August 2015

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

scientific article published on 26 February 2015

Megalencephaly and Macrocephaly

scientific article published on 10 June 2015

Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology

scientific article published on 28 May 2014

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

scientific article published on 24 January 2022

Meta-Analysis Revives Genome-Wide Association Studies in Epilepsy

scientific article published on May 2015

Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish

scientific article

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

scientific article published on 18 April 2013

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

scientific article published on 13 December 2017

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice

scientific article published on 24 June 2020

Mortality in infantile spasms: A hospital-based study

scientific article published on 05 March 2020

Mutations in KCNT1 cause a spectrum of focal epilepsies.

scientific article

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

scientific article

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

scientific article

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

scientific article

Mutations in and in a patient with early-onset epileptic encephalopathy and respiratory depression

scientific article published on 1 February 2019

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

scientific article published on 25 April 2015

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

scientific article published on 03 October 2016

Nocturnal choking episodes: under-recognized and misdiagnosed

scientific article published in November 2010

Oxcarbazepine in children with nocturnal frontal-lobe epilepsy

scientific article published in November 2007

PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.

scientific article published on 28 January 2018

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

scientific article published on 09 October 2019

Perfusion Imaging of Focal Cortical Dysplasia Using Arterial Spin Labeling: Correlation With Histopathological Vascular Density

scientific article published on 21 May 2013

Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.

scientific article

Polymicrogyria is associated with pathogenic variants in PTEN

scientific article published on 22 September 2020

Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project

scientific article

Posterior-onset Rasmussen's encephalitis with ipsilateral cerebellar atrophy and uveitis resistant to rituximab

scientific article published on 21 March 2020

Reply

scientific article published on 02 January 2014

Return of individual results in epilepsy genomic research: A view from the field

scientific article published on 10 August 2018

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

scientific article

SLC25A22 is a novel gene for migrating partial seizures in infancy.

scientific article

Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience

scientific article

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

scientific article published on 20 August 2020

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

scientific article

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

scientific article published on 03 February 2015

Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain

scientific article published on October 2012

Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

scientific article published in December 2017

Somatic activation of AKT3 causes hemispheric developmental brain malformations

scientific article published on April 2012

Somatic mutation, genomic variation, and neurological disease

scientific article

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies

scientific article published on 02 July 2019

Somatic mutations in cerebral cortical malformations

scientific article

Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders

scientific article published on 24 October 2019

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

scientific article published on 25 January 2019

Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings

scientific article

Surgery for intractable epilepsy due to unilateral brain disease: a retrospective study comparing hemispherectomy techniques

scientific article published on 22 May 2014

The Benchmarks: Progress and Emerging Priorities in Epilepsy Research

scientific article published on 23 December 2019

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

article

The Expanding SCN8A-Related Epilepsy Phenotype

scientific article published in November 2015

The Genetics of Sudden Infant Death Syndrome

article

The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition

scientific article published on 29 April 2016

The epilepsy phenome/genome project.

scientific article published on July 2013

The genetics of the epilepsies.

scientific article published on July 2015

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

The role of sodium channels in sudden unexpected death in pediatrics

scientific article published on 25 May 2020

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

scientific article

Tracking the Fate of Cells in Health and Disease

scientific article

Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases

scientific article

Trends in Resource Utilization by Children with Neurological Impairment in the United States Inpatient Health Care System: A Repeat Cross-Sectional Study ⬇️

scientific article published on January 17, 2012

Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies.

scientific article

Using whole-exome sequencing to identify inherited causes of autism

scientific article

Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies

scientific article published on 01 August 2018

When Should Genetic Testing Be Performed in Epilepsy Patients?

scientific article published on January 2017

White matter spongiosis with vigabatrin therapy for infantile spasms.

scientific article published on 23 February 2018

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

scientific article published on 28 March 2013

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.

scientific article published on 8 March 2018

Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report ⬇️

scientific article published on 14 July 2013

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