Works by Heinzen, Erin L.

Results: 37
    1
    2

    Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 5, p. 1451, doi. 10.1111/epi.17943
    By:
    • Carton, Robert J.;
    • Doyle, Michael G.;
    • Kearney, Hugh;
    • Steward, Charles A.;
    • Lench, Nicholas J.;
    • Rogers, Anthony;
    • Heinzen, Erin L.;
    • McDonald, Seamus;
    • Fay, Joanna;
    • Lacey, Austin;
    • Beausang, Alan;
    • Cryan, Jane;
    • Brett, Francesca;
    • El‐Naggar, Hany;
    • Widdess‐Walsh, Peter;
    • Costello, Daniel;
    • Kilbride, Ronan;
    • Doherty, Colin P.;
    • Sweeney, Kieron J.;
    • O'Brien, Donncha F.
    Publication type:
    Article
    3
    4

    A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1563, doi. 10.1111/epi.17228
    By:
    • Campbell, Ciarán;
    • McCormack, Mark;
    • Patel, Sonn;
    • Stapleton, Caragh;
    • Bobbili, Dheeraj;
    • Krause, Roland;
    • Depondt, Chantal;
    • Sills, Graeme J.;
    • Koeleman, Bobby P.;
    • Striano, Pasquale;
    • Zara, Federico;
    • Sander, Josemir W.;
    • Lerche, Holger;
    • Kunz, Wolfram S.;
    • Stefansson, Kari;
    • Stefansson, Hreinn;
    • Doherty, Colin P.;
    • Heinzen, Erin L.;
    • Scheffer, Ingrid E.;
    • Goldstein, David B.
    Publication type:
    Article
    5

    CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 7, p. e103, doi. 10.1111/epi.16931
    By:
    • Ernst, Michelle E.;
    • Baugh, Evan H.;
    • Thomas, Amanda;
    • Bier, Louise;
    • Lippa, Natalie;
    • Stong, Nicholas;
    • Mulhern, Maureen S.;
    • Kushary, Sulagna;
    • Akman, Cigdem I.;
    • Heinzen, Erin L.;
    • Yeh, Raymond;
    • Bi, Weimin;
    • Hanchard, Neil A.;
    • Burrage, Lindsay C.;
    • Leduc, Magalie S.;
    • Chong, Josephine S. C.;
    • Bend, Renee;
    • Lyons, Michael J.;
    • Lee, Jennifer A.;
    • Suwannarat, Pim
    Publication type:
    Article
    6

    Diverse genetic causes of polymicrogyria with epilepsy.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 4, p. 973, doi. 10.1111/epi.16854
    By:
    • Allen, Andrew S;
    • Aggarwal, Vimla;
    • Berkovic, Samuel F;
    • Cossette, Patrick;
    • Delanty, Norman;
    • Dlugos, Dennis;
    • Eichler, Evan E;
    • Epstein, Michael P;
    • Freyer, Catharine;
    • Goldstein, David B;
    • Guerrini, Renzo;
    • Glauser, Tracy;
    • Heinzen, Erin L;
    • Johnson, Michael R;
    • Kuzniecky, Ruben;
    • Lowenstein, Daniel H;
    • Marson, Anthony G;
    • Mefford, Heather C;
    • O'Brien, Terence J;
    • Ottman, Ruth
    Publication type:
    Article
    7

    The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.

    Published in:
    Epilepsia (Series 4), 2019, v. 60, n. 5, p. 797, doi. 10.1111/epi.14698
    By:
    • Berkovic, Samuel F.;
    • Goldstein, David B.;
    • Heinzen, Erin L.;
    • Laughlin, Brandon L.;
    • Lowenstein, Daniel H.;
    • Lubbers, Laura;
    • Stewart, Randall;
    • Whittemore, Vicky;
    • Angione, Kaitlin;
    • Bazil, Carl W.;
    • Bier, Louise;
    • Bluvstein, Judith;
    • Brimble, Elise;
    • Campbell, Colleen;
    • Cavalleri, Gianpiero;
    • Chambers, Chelsea;
    • Choi, Hyunmi;
    • Cilio, Maria Roberta;
    • Ciliberto, Michael;
    • Cornes, Susannah
    Publication type:
    Article
    8
    9

    Primer Part 1-The building blocks of epilepsy genetics.

    Published in:
    Epilepsia (Series 4), 2016, v. 57, n. 6, p. 861, doi. 10.1111/epi.13381
    By:
    • Helbig, Ingo;
    • Heinzen, Erin L.;
    • Mefford, Heather C.;
    • Berkovic, Samuel F;
    • Lowenstein, Daniel H;
    • Kato, Mitsuhiro;
    • Helen Cross, J.;
    • Satishchandra, P.;
    • De Jonghe, Peter;
    • Jiang, Yuwu;
    • Goldman, Alicia;
    • Petrou, Steve;
    • Tan, Nigel
    Publication type:
    Article
    10
    11

    Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery.

    Published in:
    Epilepsia (Series 4), 2011, v. 52, n. 8, p. 1388, doi. 10.1111/j.1528-1167.2011.03087.x
    By:
    • Catarino, Claudia B.;
    • Kasperavičiūtė, Dalia;
    • Thom, Maria;
    • Cavalleri, Gianpiero L.;
    • Martinian, Lillian;
    • Heinzen, Erin L.;
    • Dorn, Thomas;
    • Grunwald, Thomas;
    • Chaila, Elijah;
    • Depondt, Chantal;
    • Krämer, Günter;
    • Delanty, Norman;
    • Goldstein, David B.;
    • Sisodiya, Sanjay M.
    Publication type:
    Article
    12

    De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

    Published in:
    Nature Genetics, 2012, v. 44, n. 9, p. 1030, doi. 10.1038/ng.2358
    By:
    • Heinzen, Erin L;
    • Swoboda, Kathryn J;
    • Hitomi, Yuki;
    • Gurrieri, Fiorella;
    • Nicole, Sophie;
    • de Vries, Boukje;
    • Tiziano, F Danilo;
    • Fontaine, Bertrand;
    • Walley, Nicole M;
    • Heavin, Sinéad;
    • Panagiotakaki, Eleni;
    • Neri, Giovanni;
    • Koelewijn, Stephany;
    • Kamphorst, Jessica;
    • Geilenkirchen, Marije;
    • Pelzer, Nadine;
    • Laan, Laura;
    • Haan, Joost;
    • Ferrari, Michel;
    • van den Maagdenberg, Arn
    Publication type:
    Article
    13
    14

    A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia.

    Published in:
    PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000373
    By:
    • Need, Anna C.;
    • Dongliang Ge;
    • Weale, Michael E.;
    • Maia, Jessica;
    • Sheng Feng;
    • Heinzen, Erin L.;
    • Shianna, Kevin V.;
    • Woohyun Yoon;
    • Kasperavičiūtė, Dalia;
    • Gennarelli, Massimo;
    • Strittmatter, Warren J.;
    • Bonvicini, Cristian;
    • Rossi, Giuseppe;
    • Jayathilake, Karu;
    • Cola, Philip A.;
    • McEvoy, Joseph P.;
    • Keefe, Richard S. E.;
    • Fisher, Elizabeth M. C.;
    • St. Jean, Pamela L.;
    • Giegling, Ina
    Publication type:
    Article
    15

    Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 14, p. 2307, doi. 10.1093/hmg/ddab366
    By:
    • Green, Timothy E;
    • Motelow, Joshua E;
    • Bennett, Mark F;
    • Ye, Zimeng;
    • Bennett, Caitlin A;
    • Griffin, Nicole G;
    • Damiano, John A;
    • Leventer, Richard J;
    • Freeman, Jeremy L;
    • Harvey, A Simon;
    • Lockhart, Paul J;
    • Sadleir, Lynette G;
    • Boys, Amber;
    • Scheffer, Ingrid E;
    • Major, Heather;
    • Darbro, Benjamin W;
    • Bahlo, Melanie;
    • Goldstein, David B;
    • Kerrigan, John F;
    • Heinzen, Erin L
    Publication type:
    Article
    16

    SVA: software for annotating and visualizing sequenced human genomes.

    Published in:
    Bioinformatics, 2011, v. 27, n. 14, p. 1998, doi. 10.1093/bioinformatics/btr317
    By:
    • Ge, Dongliang;
    • Ruzzo, Elizabeth K.;
    • Shianna, Kevin V.;
    • He, Min;
    • Pelak, Kimberly;
    • Heinzen, Erin L.;
    • Need, Anna C.;
    • Cirulli, Elizabeth T.;
    • Maia, Jessica M.;
    • Dickson, Samuel P.;
    • Zhu, Mingfu;
    • Singh, Abanish;
    • Allen, Andrew S.;
    • Goldstein, David B.
    Publication type:
    Article
    17

    Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

    Published in:
    2015
    By:
    • Panagiotakaki, Eleni;
    • De Grandis, Elisa;
    • Stagnaro, Michela;
    • Heinzen, Erin L.;
    • Fons, Carmen;
    • Sisodiya, Sanjay;
    • de Vries, Boukje;
    • Goubau, Christophe;
    • Weckhuysen, Sarah;
    • Kemlink, David;
    • Scheffer, Ingrid;
    • Lesca, Gaëtan;
    • Rabilloud, Muriel;
    • Klich, Amna;
    • Ramirez-Camacho, Alia;
    • Ulate-Campos, Adriana;
    • Campistol, Jaume;
    • Giannotta, Melania;
    • Moutard, Marie-Laure;
    • Doummar, Diane
    Publication type:
    journal article
    18
    19

    Annotating pathogenic non-coding variants in genic regions.

    Published in:
    Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00141-2
    By:
    • Gelfman, Sahar;
    • Quanli Wang;
    • McSweeney, K. Melodi;
    • Zhong Ren;
    • La Carpia, Francesca;
    • Halvorsen, Matt;
    • Schoch, Kelly;
    • Ratzon, Fanni;
    • Heinzen, Erin L.;
    • Boland, Michael J.;
    • Petrovski, Slavé;
    • Goldstein, David B.
    Publication type:
    Article
    20

    Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer's Disease.

    Published in:
    Journal of Alzheimer's Disease, 2010, v. 19, n. 1, p. 69, doi. 10.3233/JAD-2010-1212
    By:
    • Heinzen, Erin L.;
    • Need, Anna C.;
    • Hayden, Kathleen M.;
    • Chiba-Falek, Ornit;
    • Roses, Allen D.;
    • Strittmatter, Warren J.;
    • Burke, James R.;
    • Hulett, Christine M.;
    • Welsh-Bohmer, Kathleen A.;
    • Goldstein, David B.
    Publication type:
    Article
    21

    Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2259, doi. 10.1002/ajmg.a.40472
    By:
    • Hemati, Parisa;
    • Revah‐Politi, Anya;
    • Bassan, Haim;
    • Petrovski, Slavé;
    • Bilancia, Colleen G.;
    • Ramsey, Keri;
    • Griffin, Nicole G.;
    • Bier, Louise;
    • Cho, Megan T.;
    • Rosello, Monica;
    • Lynch, Sally Ann;
    • Colombo, Sophie;
    • Weber, Astrid;
    • Haug, Marte;
    • Heinzen, Erin L.;
    • Sands, Tristan T.;
    • Narayanan, Vinodh;
    • Primiano, Michelle;
    • Aggarwal, Vimla S.;
    • Millan, Francisca
    Publication type:
    Article
    22
    23

    Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.

    Published in:
    Brain: A Journal of Neurology, 2010, v. 133, n. 7, p. 2136, doi. 10.1093/brain/awq130
    By:
    • Kasperavičiūte, Dalia;
    • Catarino, Claudia B.;
    • Heinzen, Erin L.;
    • Depondt, Chantal;
    • Cavalleri, Gianpiero L.;
    • Caboclo, Luis O.;
    • Tate, Sarah K.;
    • Jamnadas-Khoda, Jenny;
    • Chinthapalli, Krishna;
    • Clayton, Lisa M. S.;
    • Shianna, Kevin V.;
    • Radtke, Rodney A.;
    • Mikati, Mohamad A.;
    • Gallentine, William B.;
    • Husain, Aatif M.;
    • Alhusaini, Saud;
    • Leppert, David;
    • Middleton, Lefkos T.;
    • Gibson, Rachel A.;
    • Johnson, Michael R.
    Publication type:
    Article
    24

    Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.

    Published in:
    Annals of Neurology, 2023, v. 93, n. 4, p. 752, doi. 10.1002/ana.26581
    By:
    • Perucca, Piero;
    • Stanley, Kate;
    • Harris, Natasha;
    • McIntosh, Anne M.;
    • Asadi‐Pooya, Ali A.;
    • Mikati, Mohamad A.;
    • Andrade, Danielle M.;
    • Dugan, Patricia;
    • Depondt, Chantal;
    • Choi, Hyunmi;
    • Heinzen, Erin L.;
    • Cavalleri, Gianpiero L.;
    • Buono, Russell J.;
    • Devinsky, Orrin;
    • Sperling, Michael R.;
    • Berkovic, Samuel F.;
    • Delanty, Norman;
    • Goldstein, David B.;
    • O'Brien, Terence J.;
    • Andrade, Danielle
    Publication type:
    Article
    25

    Autism and developmental disability caused by KCNQ3 gain-of-function variants.

    Published in:
    2019
    By:
    • Sands, Tristan T.;
    • Miceli, Francesco;
    • Lesca, Gaetan;
    • Beck, Anita E.;
    • Sadleir, Lynette G.;
    • Arrington, Daniel K.;
    • Schönewolf‐Greulich, Bitten;
    • Moutton, Sébastien;
    • Lauritano, Anna;
    • Nappi, Piera;
    • Soldovieri, Maria Virginia;
    • Scheffer, Ingrid E.;
    • Mefford, Heather C.;
    • Stong, Nicholas;
    • Heinzen, Erin L.;
    • Goldstein, David B.;
    • Perez, Ana Grijalvo;
    • Kossoff, Eric H.;
    • Stocco, Amber;
    • Sullivan, Jennifer A.
    Publication type:
    journal article
    26

    Reply.

    Published in:
    2017
    By:
    • Depondt, Chantal;
    • Heinzen, Erin L.;
    • Goldstein, David B.
    Publication type:
    Letter
    27

    Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.

    Published in:
    Annals of Neurology, 2015, v. 78, n. 2, p. 323, doi. 10.1002/ana.24457
    By:
    • Allen, Andrew S.;
    • Berkovic, Samuel F.;
    • Coe, Bradley P.;
    • Cook, Joseph;
    • Cossette, Patrick;
    • Delanty, Norman;
    • Dlugos, Dennis;
    • Eichler, Evan E.;
    • Epstein, Michael P.;
    • Glauser, Tracy;
    • Goldstein, David B.;
    • Heinzen, Erin L.;
    • Johnson, Michael R.;
    • Krumm, Nik;
    • Kuzniecky, Ruben;
    • Lowenstein, Daniel H.;
    • Marson, Anthony G.;
    • Mefford, Heather C.;
    • Nelson, Ben;
    • Esmaeeli Nieh, Sahar
    Publication type:
    Article
    28

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

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 873, doi. 10.1002/ana.23998
    By:
    • Poduri, Annapurna;
    • Heinzen, Erin L.;
    • Chitsazzadeh, Vida;
    • Lasorsa, Francesco Massimo;
    • Elhosary, P. Christina;
    • LaCoursiere, Christopher M.;
    • Martin, Emilie;
    • Yuskaitis, Christopher J.;
    • Hill, Robert Sean;
    • Atabay, Kutay Deniz;
    • Barry, Brenda;
    • Partlow, Jennifer N.;
    • Bashiri, Fahad A.;
    • Zeidan, Radwan M.;
    • Elmalik, Salah A.;
    • Kabiraj, Mohammad M. U.;
    • Kothare, Sanjeev;
    • Stödberg, Tommy;
    • McTague, Amy;
    • Kurian, Manju A.
    Publication type:
    Article
    29

    Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 3, p. 496, doi. 10.1002/ana.23934
    By:
    • Hitomi, Yuki;
    • Heinzen, Erin L.;
    • Donatello, Simona;
    • Dahl, Hans‐Henrik;
    • Damiano, John A.;
    • McMahon, Jacinta M.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Legros, Benjamin;
    • Rai, Myriam;
    • Weckhuysen, Sarah;
    • Suls, Arvid;
    • Jonghe, Peter;
    • Pandolfo, Massimo;
    • Goldstein, David B.;
    • Bogaert, Patrick;
    • Depondt, Chantal
    Publication type:
    Article
    30
    31

    De novo mutations in epileptic encephalopathies.

    Published in:
    Nature, 2013, v. 501, n. 7466, p. 217, doi. 10.1038/nature12439
    By:
    • Allen, Andrew S.;
    • Berkovic, Samuel F.;
    • Cossette, Patrick;
    • Delanty, Norman;
    • Dlugos, Dennis;
    • Eichler, Evan E.;
    • Epstein, Michael P.;
    • Glauser, Tracy;
    • Goldstein, David B.;
    • Han, Yujun;
    • Heinzen, Erin L.;
    • Hitomi, Yuki;
    • Howell, Katherine B.;
    • Johnson, Michael R.;
    • Kuzniecky, Ruben;
    • Lowenstein, Daniel H.;
    • Lu, Yi-Fan;
    • Madou, Maura R. Z.;
    • Marson, Anthony G.;
    • Mefford, Heather C.
    Publication type:
    Article
    32
    33

    Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.

    Published in:
    Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab128
    By:
    • Uchitel, Julie;
    • Wallace, Keri;
    • Linh Tran;
    • Abrahamsen, Tavis;
    • Hunanyan, Arsen;
    • Prange, Lyndsey;
    • Jasien, Joan;
    • Caligiuri, Laura;
    • Pratt, Milton;
    • Rikard, Blaire;
    • Fons, Carmen;
    • De Grandis, Elisa;
    • Vezyroglou, Aikaterini;
    • Heinzen, Erin L.;
    • Goldstein, David B.;
    • Vavassori, Rosaria;
    • Papadopoulou, Maria T.;
    • Cocco, Isabella;
    • Moré, Rebecca;
    • Arzimanoglou, Alexis
    Publication type:
    Article
    34

    A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.

    Published in:
    Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.01040
    By:
    • Miceli, Francesco;
    • Carotenuto, Lidia;
    • Barrese, Vincenzo;
    • Soldovieri, Maria Virginia;
    • Heinzen, Erin L.;
    • Mandel, Arthur M.;
    • Lippa, Natalie;
    • Bier, Louise;
    • Goldstein, David B.;
    • Cooper, Edward C.;
    • Cilio, Maria Roberta;
    • Taglialatela, Maurizio;
    • Sands, Tristan T.
    Publication type:
    Article
    35

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

    Published in:
    PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007281
    By:
    • Heinzen, Erin L.;
    • O'Neill, Adam C.;
    • Zhu, Xiaolin;
    • Allen, Andrew S.;
    • Bahlo, Melanie;
    • Chelly, Jamel;
    • Dobyns, William B.;
    • Freytag, Saskia;
    • Guerrini, Renzo;
    • Leventer, Richard J.;
    • Poduri, Annapurna;
    • Robertson, Stephen P.;
    • Walsh, Christopher A.;
    • Zhang, Mengqi;
    • null, null
    Publication type:
    Article
    36

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

    Published in:
    PLoS Genetics, 2017, v. 13, n. 11, p. 1, doi. 10.1371/journal.pgen.1007104
    By:
    • Zhu, Xiaolin;
    • Padmanabhan, Raghavendra;
    • Copeland, Brett;
    • Bridgers, Joshua;
    • Ren, Zhong;
    • Kamalakaran, Sitharthan;
    • O'Driscoll-Collins, Ailbhe;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Poduri, Annapurna;
    • Mei, Davide;
    • Guerrini, Renzo;
    • Lowenstein, Daniel H.;
    • Allen, Andrew S.;
    • Heinzen, Erin L.;
    • Goldstein, David B.
    Publication type:
    Article
    37

    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 23, p. 4650, doi. 10.1093/hmg/ddp413
    By:
    • Need, Anna C.;
    • Attix, Deborah K.;
    • McEvoy, Jill M.;
    • Cirulli, Elizabeth T.;
    • Linney, Kristen L.;
    • Hunt, Priscilla;
    • Ge, Dongliang;
    • Heinzen, Erin L.;
    • Maia, Jessica M.;
    • Shianna, Kevin V.;
    • Weale, Michael E.;
    • Cherkas, Lynn F.;
    • Clement, Gail;
    • Spector, Tim D.;
    • Gibson, Greg;
    • Goldstein, David B.
    Publication type:
    Article