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Baldassari, Sara [Author]; Picard, Fabienne [Author]; Verbeek, Nienke E. [Author]; Kempen, Marjan van [Author]; Brilstra, Eva H. [Author]; Lesca, Gaetan [Author]; Conti, Valerio [Author]; Guerrini, Renzo [Author]; Bisulli, Francesca [Author]; Licchetta, Laura [Author]; Pippucci, Tommaso [Author]; Tinuper, Paolo [Author]; Hirsch, Edouard [Author]; Saint Martin, Anne de [Author]; Chelly, Jamel [Author]; Rudolf, Gabrielle [Author]; Chipaux, Mathilde [Author]; Ferrand-Sorbets, Sarah [Author]; Dorfmüller, Georg [Author]; Sisodiya, Sanjay [Author]; Balestrini, Simona [Author]; Schoeler, Natasha [Author]; Hernandez-Hernandez, Laura [Author]; Krithika, Sundararaman [Author]; [...]

The landscape of epilepsy-related GATOR1 variants

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2019

Published in: Genetics in medicine ; 21(2019), 2, Seite 398-408
Poduri, Annapurna

When Should Genetic Testing be Performed in Epilepsy Patients?

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SAGE Publications, 2017

Published in: Epilepsy Currents, 17 (2017) 1, Seite 16-22
Poduri, Annapurna

The Expanding SCN8A-Related Epilepsy Phenotype : SCN8A-Related Epileptic Encephalopathy : <i>SCN8A</i>-Related Epileptic Encephalopathy

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SAGE Publications, 2015

Published in: Epilepsy Currents, 15 (2015) 6, Seite 333-334
Poduri, Annapurna

Meta-Analysis Revives Genome-Wide Association Studies in Epilepsy : A New Look at GWAS in Common Epilepsies : A New Look at GWAS in Common Epilepsies

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SAGE Publications, 2015

Published in: Epilepsy Currents, 15 (2015) 3, Seite 122-123
Poduri, Annapurna

A channel for precision diagnosis and treatment in genetic epilepsy

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Wiley, 2014

Published in: Annals of Neurology, 76 (2014) 3, Seite 323-324
Poduri, Annapurna

DEPDC5 does it all: Shared genetics for diverse epilepsy syndromes

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Wiley, 2014

Published in: Annals of Neurology, 75 (2014) 5, Seite 631-633
Poduri, Annapurna

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

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SAGE Publications, 2014

Published in: Epilepsy Currents, 14 (2014) 6, Seite 348-349
Poduri, Annapurna

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

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Wiley, 2012

Published in: Annals of Neurology, 71 (2012) 1, Seite 1-2
Poduri, Annapurna; Lowenstein, Daniel

Epilepsy genetics—past, present, and future

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Elsevier BV, 2011

Published in: Current Opinion in Genetics & Development, 21 (2011) 3, Seite 325-332
Goldstein, Richard D.; Poduri, Annapurna

Seizures and Sudden Death Beyond SUDEP

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Ovid Technologies (Wolters Kluwer Health), 2024

Published in: Neurology, 102 (2024) 3
Olson, Heather E; Poduri, Annapurna

Towards understanding genetic risk in febrile seizures: innate immunity and neuronal excitability

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Oxford University Press (OUP), 2022

Published in: Brain, 145 (2022) 2, Seite 416-417
Poduri, Annapurna; Whittemore, Vicky Holets

The Benchmarks: Progress and Emerging Priorities in Epilepsy Research

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SAGE Publications, 2020

Published in: Epilepsy Currents, 20 (2020) 1_suppl, Seite 3S-4S
Perry, M. Scott; Poduri, Annapurna

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

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SAGE Publications, 2018

Published in: Epilepsy Currents, 18 (2018) 1, Seite 24-26
Poduri, Annapurna; Pomeroy, Scott L.

Tracking the Fate of Cells in Health and Disease

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Massachusetts Medical Society, 2016

Published in: New England Journal of Medicine, 375 (2016) 25, Seite 2494-2496
Mirzaa, Ghayda M.; Poduri, Annapurna

Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

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Wiley, 2014

Published in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166 (2014) 2, Seite 156-172
D'Gama, Alissa M.; Poduri, Annapurna

Brain somatic mosaicism in epilepsy: Bringing results back to the clinic

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Elsevier BV, 2023

Published in: Neurobiology of Disease, 181 (2023), Seite 106104
Wiltrout, Kimberly; Brimble, Elise; Poduri, Annapurna

Comprehensive phenotypes of patients with SYNGAP1‐related disorder reveals high rates of epilepsy and autism

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Wiley, 2024

Published in: Epilepsia, 65 (2024) 5, Seite 1428-1438
Trowbridge, Sara; Poduri, Annapurna; Olson, Heather

Early diagnosis and experimental treatment with fenfluramine via the Investigational New Drug mechanism in a boy with Dravet syndrome and recurrent status epilepticus

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Wiley, 2021

Published in: Epileptic Disorders, 23 (2021) 6, Seite 954-956
Berg, Anne T.; Mahida, Sonal; Poduri, Annapurna

KCNQ2‐DEE: developmental or epileptic encephalopathy?

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Wiley, 2021

Published in: Annals of Clinical and Translational Neurology, 8 (2021) 3, Seite 666-676
D'Gama, Alissa M.; Poduri, Annapurna

Precision Therapy for Epilepsy Related to Brain Malformations

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Elsevier BV, 2021

Published in: Neurotherapeutics, 18 (2021) 3, Seite 1548-1563

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