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A structurally precise mechanism links an epilepsy-associated <i>KCNC2</i> potassium channel mutation to interneuron dysfunction

Proceedings of the National Academy of Sciences
2024 | Journal article
Contributors: Clatot, Jerome; Currin, Christopher B.; Liang, Qiansheng; Pipatpolkai, Tanadet; Massey, Shavonne L.; Helbig, Ingo; Delemotte, Lucie; Vogels, Tim P.; Covarrubias, Manuel; Goldberg, Ethan M.
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De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics
2024 | Journal article
Contributors: Scala, Marcello; Tomati, Valeria; Ferla, Matteo; Lena, Mariateresa; Cohen, Julie S.; Fatemi, Ali; Brokamp, Elly; Bican, Anna; Phillips III, John A.; Koziura, Mary E. et al.
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Molecular and cellular context influences SCN8A variant function

JCI Insight
2024 | Journal article
Contributors: Vanoye, Carlos G.; Abramova, Tatiana V.; DeKeyser, Jean -Marc; Ghabra, Nora F.; Oudin, Madeleine J.; Burge, Christopher B.; Helbig, Ingo; Thompson, Christopher H.; George, Alfred L.
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The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals

MedRxiv
2024 | Journal article
Contributors: Magielski, Jan; Ruggiero, Sarah M.; Xian, Julie; Parthasarathy, Shridhar; Galer, Peter; Ganesan, Shiva; Back, Amanda; McKee, Jillian; McSalley, Ian; Gonzalez, Alexander K et al.
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A single-cell transcriptome atlas of glial diversity in the human hippocampus across the postnatal lifespan (vol 29, pg 1594, 2022)

Cell Stem Cell
2023 | Journal article
Contributors: Su, Yijing; Zhou, Yi; Bennett, Mariko L.; Li, Shiying; Carceles-Cordon, Marc; Lu, Lu; Huh, Sooyoung; Jimenez-Cyrus, Dennisse; Kennedy, Benjamin C.; Kessler, Sudha K. et al.
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Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> A Case Report and Review of the Literature

Genes
2023 | Journal article
Contributors: Schaare, Donna; Sarasua, Sara M.; Lusk, Laina; Parthasarathy, Shridhar; Wang, Liangjiang; Helbig, Ingo; Boccuto, Luigi
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Delineating clinical and developmental outcomes in <italic>STXBP1</italic>-related disorders

MedRxiv
2023 | Journal article
Contributors: Xian, Julie; Thalwitzer, Kim Marie; McKee, Jillian; Sullivan, Katie Rose; Brimble, Elise; Fitch, Eryn; Toib, Jonathan; Kaufman, Michael C.; deCampo, Danielle; Cunningham, Kristin et al.
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Enriching representation learning using 53 million patient notes through human phenotype ontology embedding

Artificial Intelligence in Medicine
2023 | Journal article
Contributors: Daniali, Maryam; Galer, Peter D.; Lewis-Smith, David; Parthasarathy, Shridhar; Kim, Edward; Salvucci, Dario D.; Miller, Jeffrey M.; Haag, Scott; Helbig, Ingo
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Expansion of the set of seizure-associated copy number variants to 25 and their clinical characterization in 562 carriers

Epilepsia
2023 | Journal article
Contributors: Lewis-Smith, D.; Montanucci, L.; Collins, R. L.; Niestroj, L-M; Parthasarathy, S.; Xian, J.; Ganesan, S.; Macnee, M.; Breunger, T.; Thomas, R. H. et al.
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Gain- of- function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disorders

eLife
2023 | Journal article
Contributors: Burglen, Lydie; Van Hoeymissen, Evelien; Qebibo, Leila; Barth, Magalie; Belnap, Newell; Boschann, Felix; Depienne, Christel; De Clercq, Katrien; Douglas, Andrew G. L.; Fitzgerald, Mark P. et al.
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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Nature Communications
2023 | Journal article
Contributors: Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L.; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Bruenger, Tobias; Thomas, Rhys H. et al.
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Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study

The Lancet Digital Health
2023 | Journal article
Contributors: McKee, Jillian L.; Kaufman, Michael C.; Gonzalez, Alexander K.; Fitzgerald, Mark P.; Massey, Shavonne L.; Fung, France; Kessler, Sudha K.; Witzman, Stephanie; Abend, Nicholas S.; Helbig, Ingo
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Loss of <i>Grin2a</i> causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons

Communications Biology
2023 | Journal article
Contributors: Camp, Chad R.; Vlachos, Anna; Kloeckner, Chiara; Krey, Ilona; Banke, Tue G.; Shariatzadeh, Nima; Ruggiero, Sarah M.; Galer, Peter; Park, Kristen L.; Caccavano, Adam et al.
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Loss of<italic> Grin2a</italic> Causes a Transient Delay in the Electrophysiological Maturation of Hippocampal Parvalbumin Interneurons: A Possible Mechanism for Transient Seizure Burden in Patients with Null<italic> GRIN2A</italic> Variants

BioRxiv
2023 | Journal article
Contributors: Camp, Chad R.; Vlachos, Anna; Klockner, Chiara; Krey, Ilona; Banke, Tue G.; Shariatzadeh, Nima; Ruggiero, Sarah M; Galer, Peter; Park, Kristen L; Caccavano, Adam et al.
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Molecular and Cellular Context Influences <italic>SCN8A</italic> Variant Function

BioRxiv
2023 | Journal article
Contributors: Vanoye, Carlos G.; Abramova, Tatiana V.; Dekeyser, Jean-Marc; Ghabra, Nora F.; Oudin, Madeleine J.; Burge, Christopher B.; Helbig, Ingo; Thompson, Christopher H.; George Jr, Alfred L.
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Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

Briefings in Bioinformatics
2023 | Journal article
Contributors: Wang, Robert; Helbig, Ingo; Edmondson, Andrew C.; Lin, Lan; Xing, Yi
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The Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research
2023 | Journal article
Contributors: Gargano, Michael A.; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B.; Anagnostopoulos, Anna V.; Anderton, Joel; Avillach, Paul; Bagley, Anita M.; Bakstein, Eduard; Balhoff, James P. et al.
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A recurrent<i> de</i><i> novo</i> splice site variant involving<i> DNM1</i> exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

The American Journal of Human Genetics
2022 | Journal article
Contributors: Parthasarathy, Shridhar; Ruggiero, Sarah McKeown; Gelot, Antoinette; Soardi, Fernanda C.; Ribeiro, Bethania F. R.; Pires, Douglas E., V; Ascher, David B.; Schmitt, Alain; Rambaud, Caroline; Represa, Alfonso et al.
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A single-cell transcriptome atlas of glial diversity in the human hippocampus across the postnatal lifespan

Cell Stem Cell
2022 | Journal article
Contributors: Su, Yijing; Zhou, Yi; Bennett, Mariko L.; Li, Shiying; Carceles-Cordon, Marc; Lu, Lu; Huh, Sooyoung; Jimenez-Cyrus, Dennisse; Kennedy, Benjamin C.; Kessler, Sudha K. et al.
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Base editing the synapse: Modeling a complex neurological disorder in non-human primates

Molecular Therapy
2022 | Journal article
Contributors: Prosser, Benjamin L.; Helbig, Ingo
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Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals

MedRxiv
2022 | Journal article
Contributors: Galer, Peter D; Parthasarathy, Shridhar; Xian, Julie; McKee, Jillian L; Ruggiero, Sarah M; Ganesan, Shiva; Lewis-Smith, David; Kaufman, Michael C; Cohen, Stacey R; Haag, Scott et al.
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Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery

Human Mutation
2022 | Journal article
Contributors: Lewis-Smith, David; Parthasarathy, Shridhar; Xian, Julie; Kaufman, Michael C.; Ganesan, Shiva; Galer, Peter D.; Thomas, Rhys H.; Helbig, Ingo
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Delineation of the epileptic and neurodevelopmental phenotype associated with germline variants of the <i>RORB</i> gene

Epilepsia
2022 | Journal article
Contributors: Gokce-Samar, Z.; Vetro, A.; de Bellescize, J.; Sanlaville, D.; Pisano, T.; Korff, C.; Fluss, J.; Marini, C.; Alvarez, B. Mercedes; Chatron, N. et al.
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High-throughput evaluation of epilepsy-associated <i>KCNQ2</i> variants reveals functional and pharmacological heterogeneity

JCI Insight
2022 | Journal article
Contributors: Vanoye, Carlos G.; Desai, Reshma R.; Ji, Zhigang; Adusumilli, Sneha; Jairam, Nirvani; Ghabra, Nora; Joshi, Nishtha; Fitch, Eryn; Helbig, Katherine L.; McKnight, Dianalee et al.
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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Molecular Genetics and Metabolism Reports
2022 | Journal article
Contributors: Priestley, Jessica R. C.; Pace, Lisa M.; Sen, Kuntal; Aggarwal, Anjali; Alves, Cesar Augusto P. F.; Campbell, Ian M.; Cuddapah, Sanmati R.; Engelhardt, Nicole M.; Eskandar, Marina; Garcia, Paloma C. Jolin et al.
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MALATE DEHYDROGENASE DEFICIENCY: EXPANDING THE PHENOTYPIC SPECTRUM

Molecular Genetics and Metabolism
2022 | Journal article
Contributors: Priestley, Jessica; Pace, Lisa; Engelhardt, Nicole; Lusk, Laina; Trapane, Pamela; Cuddapah, Sanmati; Helbig, Ingo; Ganetzky, Rebecca
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Molecular Diagnostic Outcomes from 700 Cases <i>What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing</i>?

Journal of Molecular Diagnostics
2022 | Journal article
Contributors: Murrell, Jill R.; Nesbitt, Addie May, I; Baker, Samuel W.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wu, Chao; Jayaraman, Pushkala et al.
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Molecular landscapes of human hippocampal immature neurons across lifespan

Nature
2022 | Journal article
Contributors: Zhou, Yi; Su, Yijing; Li, Shiying; Kennedy, Benjamin C.; Zhang, Daniel Y.; Bond, Allison M.; Sun, Yusha; Jacob, Fadi; Lu, Lu; Hu, Peng et al.
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PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

BMC Medical Informatics and Decision Making
2022 | Journal article
Contributors: Havrilla, James M.; Singaravelu, Anbumalar; Driscoll, Dennis M.; Minkovsky, Leonard; Helbig, Ingo; Medne, Livija; Wang, Kai; Krantz, Ian; Desai, Bimal R.
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Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning

EBioMedicine
2022 | Journal article
Contributors: Bosselmann, Christian Malte; Hedrich, Ulrike B. S.; Mueller, Peter; Sonnenberg, Lukas; Parthasarathy, Shridhar; Helbig, Ingo; Lerche, Holger; Pfeifer, Nico
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Psychometric outcome measures in beta-propeller protein-associated

Molecular Genetics and Metabolism
2022 | Journal article
Contributors: Gavazzi, Francesco; Pierce, Samuel R.; Vithayathil, Joseph; Cunningham, Kristin; Anderson, Kim; McCann, Jacob; Moll, Ashley; Muirhead, Kayla; Sherbini, Omar; Prange, Erin et al.
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Seizure prediction in 1117 neonates leveraging EMR-embedded standardized EEG reporting

MedRxiv
2022 | Journal article
Contributors: McKee, J. L.; Kaufman, M.C; Gonzalez, A.K; Fitzgerald, M. P.; Massey, S. L.; Fung, F.; Kessler, S. K.; Witzman, S.; Abend, N.S; Helbig, I.
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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Genome Medicine
2022 | Journal article
Contributors: Danis, Daniel; Jacobsen, Julius O. B.; Balachandran, Parithi; Zhu, Qihui; Yilmaz, Feyza; Reese, Justin; Haimel, Matthias; Lyon, Gholson J.; Helbig, Ingo; Mungall, Christopher J. et al.
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The clinical and neuroradiological spectrum of variants in the GAR domain of MACF1

European Journal of Human Genetics
2022 | Journal article
Contributors: Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A.; Everman, David B.; Sullivan, Jennifer A.; Shashi, Vandana; Zaki, Maha S.; Gleeson, Joseph G.; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie et al.
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The efficacy of Levetiracetam in <i>SCN8A</i>-epilepsy

Epilepsia
2022 | Journal article
Contributors: Pisati, A.; Musto, E.; Valletti, M. Aluffi; Furia, F.; Ortigoza Escobar, J. D.; Milh, M.; Fitzgerald, M. P.; Trivisano, M.; Johanessen, K.; Goldberg, E. M. et al.
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One year of child neurology telemedicine: a data-driven analysis of 14,820 encounters

MedRxiv
2021 | Journal article
Contributors: Kaufman, M. C.; Xian, J.; Galer, P. D.; Parthasarathy, S.; Gonzalez, A. K.; Helbig, K.; McKeown, S.; Prelack, M. S.; Fitzgerald, M. P.; Craig, S. et al.
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De novo variants in neurodevelopmental disorders with epilepsy

European Journal of Human Genetics
2019 | Journal article
Contributors: Heyne, H. O.; Singh, T.; Stamberger, H.; Poduri, A.; Weber, Y.; Weckhuysen, S.; Sisodiya, S. M.; Daly, M. J.; Helbig, I.; Lal, D. et al.
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Epilepsy Phenotype In Patients With Rare De Novo <i>DYNC1H1</i> Variants

Epilepsia
2019 | Journal article
Contributors: Coppola, A.; Bak, M.; Barca, D.; Iliescu, C.; Fung, F.; Helbig, K.; Ortiz-Gonzalez, X.; Schelhaas, J.; Willemsen, M.; Verhoeven, J. et al.
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Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

New England Journal of Medicine
2019 | Journal article
Contributors: Lerche, Holger; Berkovic, Samuel F.; Lowenstein, Daniel H.; May, P.; Wolking, S.; Musa, M. K.; Lal, D.; Heyne, H. O.; Bobbili, D. R.; Perez-Palma, E. et al.
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ESES-like EEG Pattern in <i>KCNB1</i>-Related Encephalopathy

Epilepsia
2018 | Journal article
Contributors: Rubboli, G.; Desai, S.; Naidu, S.; Srivastava, S.; Helbig, I.; Pendziwiat, M.; Polster, T.; Koeleman, B.; Moller, R. S.; Gardella, E.
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SMC1A MUTATIONS CAUSE MECHANISTICALLY SEPARABLE ALLELIC DISORDERS: ATYPICAL CORNELIA DE LANGE SYNDROME AND A RETT-LIKE EPILEPTIC ENCEPHALOPATHY

American Journal of Medical Genetics Part A
2018 | Journal article
Contributors: Ritter, A.; Helbig, I.; Kline, A. D.; Helbig, K.; Noon, S. E.; Krantz, I. D.; Deardorff, M. A.
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LINKAGE ANALYSIS IN MEDIUM SIZED FAMILIES AS A TOOL TO PRIORITIZE VARIANTS FROM EXOME SEQUENCING

Epilepsia
2016 | Journal article
Contributors: Afawi, Z.; Pendziwiat, M.; von Spiczak, S.; Rosenow, F.; Kanaan, M.; Helbig, I; Klein, K. M.
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SYSTEMATIC RECRUITMENT AND ANALYSIS OF EPILEPSY FAMILIES IN PALESTINE

Epilepsia
2016 | Journal article
Contributors: Abu-Rayyn, A.; Afawi, Z.; Canavati, C.; Pendziwiat, M.; Helbig, I; Klein, K. M.; Kanaan, M.
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THE PHENOTYPIC SPECTRUM OF A FAMILIAL <i>GRIN2A</i> TRUNCATION MUTATION

Epilepsia
2016 | Journal article
Contributors: Muhle, H.; Boor, R.; Walther, B.; Pendziwiat, M.; Jaehn, J.; von Spiczak, S.; Stephani, U.; Helbig, I
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THE PHENOTYPIC SPECTRUM OF THE RECURRENT <i>SCN2A</i> R1319Q MUTATION

Epilepsia
2016 | Journal article
Contributors: Helbig, I; Johannesen, K. M.; Pendziwiat, M.; Bissan, H.; Kivity, S.; Lemke, J. R.; Riesch, E.; Kanaan, M.; Afawi, Z.; Klein, K. M. et al.
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WHOLE EXOME SEQUENCING IN THE EPILEPSIES: THE DEVELOPING DIAGNOSTIC EXOME SIGNATURE OF EPILEPSY GENES OVER A 5-YEAR PERIOD

Epilepsia
2016 | Journal article
Contributors: Helbig, K.; Hagman, Farwell K.; Powis, Z.; Tang, S.; Helbig, I
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DE NOVO LOSS- OR GAIN-OF-FUNCTION MUTATIONS IN <i>KCNA2</i> CAUSE EPILEPTIC ENCEPHALOPATHY

Epilepsia
2015 | Journal article
Contributors: Syrbe, S.; Hedrich, U.; Riesch, E.; Djemie, T.; Mueller, S.; Moller, R. S.; Maher, B.; Hernandez-Hernandez, L.; Synofzik, M.; Caglayan, H. et al.
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MODELING OF FEVER-ASSOCIATED EPILEPSY SYNDROMES CAUSED BY MUTATIONS IN <i>STX1B</i> IN ZEBRAFISH

Epilepsia
2015 | Journal article
Contributors: Siekierska, A.; Schubert, J.; Langlois, M.; May, P.; Huneau, C.; Becker, F.; Muhle, H.; Suls, A.; Lemke, J. R.; De Kovel, C. G. F. et al.
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MUTATIONS IN THE GABA TRANSPORTER <i>SLC6A1</i> CAUSE EPILEPSY WITH MYOCLONIC ATONIC SEIZURES

Epilepsia
2015 | Journal article
Contributors: Carvill, G. L.; McMahon, J. M.; Schneider, A.; Zemel, M.; Myers, C. T.; Saykally, J.; Nguyen, J.; Robbiano, A.; Zara, F.; Specchio, N. et al.
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DE NOVO LOSS-OF-FUNCTION MUTATIONS IN CHD2 CAUSE A FEVER-SENSITIVE MYOCLONIC EPILEPTIC ENCEPHALOPATHY SHARING FEATURES WITH DRAVET SYNDROME

Epilepsia
2014 | Journal article
Contributors: Suls, A.; Jaehn, J. J.; Kecskes, A.; Weber, Y.; Weckhuysen, S.; Craiu, D. C.; Siekierska, A.; Djemie, T.; Afrikanova, T.; Gormley, P. et al.
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