Search Results - "Heron, Sarah E"

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy by Heron, Sarah E, Smith, Katherine R, Bahlo, Melanie, Nobili, Lino, Kahana, Esther, Licchetta, Laura, Oliver, Karen L, Mazarib, Aziz, Afawi, Zaid, Korczyn, Amos, Plazzi, Giuseppe, Petrou, Steven, Berkovic, Samuel F, Scheffer, Ingrid E, Dibbens, Leanne M

“…Samuel Berkovic and colleagues report the identification of missense mutations in KCNT1 , which encodes a sodium-gated potassium channel, that cause severe…”
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KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine by Milligan, Carol J., Li, Melody, Gazina, Elena V., Heron, Sarah E., Nair, Umesh, Trager, Chantel, Reid, Christopher A., Venkat, Anu, Younkin, Donald P., Dlugos, Dennis J., Petrovski, Slavé, Goldstein, David B., Dibbens, Leanne M., Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven

“…Objective Mutations in KCNT1 have been implicated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and epilepsy of infancy with migrating focal…”
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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy by Ricos, Michael G., Hodgson, Bree L., Pippucci, Tommaso, Saidin, Akzam, Ong, Yeh Sze, Heron, Sarah E., Licchetta, Laura, Bisulli, Francesca, Bayly, Marta A., Hughes, James, Baldassari, Sara, Palombo, Flavia, Santucci, Margherita, Meletti, Stefano, Berkovic, Samuel F., Rubboli, Guido, Thomas, Paul Q., Scheffer, Ingrid E., Tinuper, Paolo, Geoghegan, Joel, Schreiber, Andreas W., Dibbens, Leanne M.

“…Objective Focal epilepsies are the most common form observed and have not generally been considered to be genetic in origin. Recently, we identified mutations…”
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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation by Gardella, Elena, Becker, Felicitas, Møller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael, Thiele, Holger, Altmüller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nürnberg, Peter, Mang, Yuan, Bakke Møller, Louise, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sándor, Weber, Yvonne G.

“…Objective Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia (PKD), and their combination—known as infantile convulsions and…”
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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy by Weckhuysen, Sarah, Mandelstam, Simone, Suls, Arvid, Audenaert, Dominique, Deconinck, Tine, Claes, Lieve R.F., Deprez, Liesbet, Smets, Katrien, Hristova, Dimitrina, Yordanova, Iglika, Jordanova, Albena, Ceulemans, Berten, Jansen, An, Hasaerts, Danièle, Roelens, Filip, Lagae, Lieven, Yendle, Simone, Stanley, Thorsten, Heron, Sarah E., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Peter de Jonghe

“…Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation…”
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Mutations in KCNT1 cause a spectrum of focal epilepsies by Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh‐Olsen, Bente, Dibbens, Leanne M.

“…Summary Autosomal dominant mutations in the sodium‐gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes,…”
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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome by Heron, Sarah E., Grinton, Bronwyn E., Kivity, Sara, Afawi, Zaid, Zuberi, Sameer M., Hughes, James N., Pridmore, Clair, Hodgson, Bree L., Iona, Xenia, Sadleir, Lynette G., Pelekanos, James, Herlenius, Eric, Goldberg-Stern, Hadassa, Bassan, Haim, Haan, Eric, Korczyn, Amos D., Gardner, Alison E., Corbett, Mark A., Gécz, Jozef, Thomas, Paul Q., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.

“…Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified…”
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Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy? by Heron, Sarah E., Hernandez, Marta, Edwards, Caitlin, Edkins, Edward, Jansen, Floor E., Scheffer, Ingrid E., Berkovic, Samuel F., Mulley, John C.

“…Summary We identified a patient with electrophysiologically verified neonatal long QT syndrome (LQTS) and neonatal seizures in the presence of a controlled…”
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Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy by Berkovic, Samuel F., Heron, Sarah E., Giordano, Lucio, Marini, Carla, Guerrini, Renzo, Kaplan, Robert E., Gambardella, Antonio, Steinlein, Ortrud K., Grinton, Bronwyn E., Dean, Joanne T., Bordo, Laura, Hodgson, Bree L., Yamamoto, Toshiyuki, Mulley, John C., Zara, Federico, Scheffer, Ingrid E.

“…We recently reported mutations in the sodium channel gene SCN2A in two families with benign familial neonatal‐infantile seizures (BFNISs). Here, we aimed to…”
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SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum by Herlenius, Eric, Heron, Sarah E., Grinton, Bronwyn E., Keay, Deborah, Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.

“…Mutations of the sodium channel subunit gene SCN2A have been described in families with benign familial neonatal‐infantile seizure (BFNIS). We describe two…”
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Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures by Yamamoto, Toshiyuki, Shimojima, Keiko, Sangu, Noriko, Komoike, Yuta, Ishii, Atsushi, Abe, Shinpei, Yamashita, Shintaro, Imai, Katsumi, Kubota, Tetsuo, Fukasawa, Tatsuya, Okanishi, Tohru, Enoki, Hideo, Tanabe, Takuya, Saito, Akira, Furukawa, Toru, Shimizu, Toshiaki, Milligan, Carol J, Petrou, Steven, Heron, Sarah E, Dibbens, Leanne M, Hirose, Shinichi, Okumura, Akihisa

“…Nucleotide alterations in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been identified in most patients with benign partial epilepsies…”
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KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects by Lim, Chiao Xin, Ricos, Michael G, Dibbens, Leanne M, Heron, Sarah E

“…Mutations in the sodium-gated potassium channel subunit gene KCNT1 have recently emerged as a cause of several different epileptic disorders. This review…”
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Genetic variation of CACNA1H in idiopathic generalized epilepsy by Heron, Sarah E., Phillips, Hilary A., Mulley, John C., Mazarib, Aziz, Neufeld, Miriam Y., Berkovic, Samuel F., Scheffer, Ingrid E.

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Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy by Heron, Sarah E, Dibbens, Leanne M

“…Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently been identified as the cause of three clinical entities: benign…”
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A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel by Xu, Ruwei, Thomas, Evan A., Jenkins, Misty, Gazina, Elena V., Chiu, Cindy, Heron, Sarah E., Mulley, John C., Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven

“…Seizure susceptibility is high in human infants compared to adults, presumably because of developmentally regulated changes in neural excitability. Benign…”
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Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations by Scheffer, Ingrid E., Heron, Sarah E., Regan, Brigid M., Mandelstam, Simone, Crompton, Douglas E., Hodgson, Bree L., Licchetta, Laura, Provini, Federica, Bisulli, Francesca, Vadlamudi, Lata, Gecz, Jozef, Connelly, Alan, Tinuper, Paolo, Ricos, Michael G., Berkovic, Samuel F., Dibbens, Leanne M.

“…We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small families with nonlesional focal…”
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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy by Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina

“…Anna-Elina Lehesjoki and colleagues report exome sequencing of 84 cases of progressive myoclonus epilepsy (PME) and targeted resequencing of an additional 28…”
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A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation by Puskarjov, Martin, Seja, Patricia, Heron, Sarah E, Williams, Tristiana C, Ahmad, Faraz, Iona, Xenia, Oliver, Karen L, Grinton, Bronwyn E, Vutskits, Laszlo, Scheffer, Ingrid E, Petrou, Steven, Blaesse, Peter, Dibbens, Leanne M, Berkovic, Samuel F, Kaila, Kai

“…Genetic variation in SLC12A5 which encodes KCC2, the neuron‐specific cation‐chloride cotransporter that is essential for hyperpolarizing GABAergic signaling…”
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Mutations in DEPDC5 cause familial focal epilepsy with variable foci by Dibbens, Leanne M, de Vries, Boukje, Donatello, Simona, Heron, Sarah E, Hodgson, Bree L, Chintawar, Satyan, Crompton, Douglas E, Hughes, James N, Bellows, Susannah T, Klein, Karl Martin, Callenbach, Petra M C, Corbett, Mark A, Gardner, Alison E, Kivity, Sara, Iona, Xenia, Regan, Brigid M, Weller, Claudia M, Crimmins, Denis, O'Brien, Terence J, Guerrero-López, Rosa, Mulley, John C, Dubeau, Francois, Licchetta, Laura, Bisulli, Francesca, Cossette, Patrick, Thomas, Paul Q, Gecz, Jozef, Serratosa, Jose, Brouwer, Oebele F, Andermann, Frederick, Andermann, Eva, van den Maagdenberg, Arn M J M, Pandolfo, Massimo, Berkovic, Samuel F, Scheffer, Ingrid E

“…Leanne Dibbens, Ingrid Scheffer and colleagues report the identification of mutations in DEPDC5 that cause familial focal epilepsy with variable foci. The…”
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Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome by Grinton, Bronwyn E., Heron, Sarah E., Pelekanos, James T., Zuberi, Sameer M., Kivity, Sara, Afawi, Zaid, Williams, Tristiana C., Casalaz, Dan M., Yendle, Simone, Linder, Ilan, Lev, Dorit, Lerman‐Sagie, Tally, Malone, Stephen, Bassan, Haim, Goldberg‐Stern, Hadassa, Stanley, Thorsten, Hayman, Michael, Calvert, Sophie, Korczyn, Amos D., Shevell, Michael, Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.

“…Summary Objective We evaluated seizure outcome in a large cohort of familial neonatal seizures (FNS), and examined phenotypic overlap with different molecular…”
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