PMC Links for OMIM (Select 182810) - PMC

Select item 106209431.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, Genomics England Research Consortium

Genet Med. 2023 Jan; 25(1): 76–89. doi: 10.1016/j.gim.2022.09.013

PMCID:: PMC10620943

Abstract Article PDF–1.2M

Select item 92328832.

De novo and dominantly inherited SPTAN1 mutations cause Spastic Paraplegia and Cerebellar Ataxia

Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G. Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot-Noël, Tine Deconinck, Atay Vural, Sibel Ertan, Okan Dogu, Hilmi Uysal, Vesna Brankovic, Rebecca Herzog, Alexis Brice, Alexandra Durr, Stephan Klebe, Friedrich Stock, Almut Turid Bischoff, Tim Rattay, María-Jesús Sobrido, Giovanna De Michele, Peter De Jonghe, Thomas Klopstock, Katja Lohmann, Ginevra Zanni, Filippo M. Santorelli, Vincent Timmerman, Tobias B. Haack, Stephan Züchner, PREPARE consortium, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, A. Nazli Basak, Jonathan Baets

Mov Disord. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Mov Disord. 2022 Jun; 37(6): 1175–1186. Published online 2022 Feb 12. doi: 10.1002/mds.28959

PMCID:: PMC9232883

Abstract Article PDF–1.2M

Select item 62484093.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini

Brain. 2017 Sep; 140(9): 2322–2336. Published online 2017 Aug 24. doi: 10.1093/brain/awx195

PMCID:: PMC6248409

Abstract Article PDF–741K

Select item 35375044.

Characterization and expression of a heart-selective alternatively spliced variant of αII-spectrin, cardi+, during development in the rat

Yinghua Zhang, Wendy G. Resneck, Pervis C. Lee, William R. Randall, Robert J. Bloch, Jeanine A. Ursitti

J Mol Cell Cardiol. Author manuscript; available in PMC 2013 Jan 4.

Published in final edited form as: J Mol Cell Cardiol. 2010 Jun; 48(6): 1050–1059. Published online 2010 Jan 28. doi: 10.1016/j.yjmcc.2010.01.001

PMCID:: PMC3537504

Abstract Article PDF–3.4M

Select item 33762615.

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

Fadi F Hamdan, Hirotomo Saitsu, Kiyomi Nishiyama, Julie Gauthier, Sylvia Dobrzeniecka, Dan Spiegelman, Jean-Claude Lacaille, Jean-Claude Décarie, Naomichi Matsumoto, Guy A Rouleau, Jacques L Michaud

Eur J Hum Genet. 2012 Jul; 20(7): 796–800. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.271

PMCID:: PMC3376261

Abstract Article PDF–428K

Select item 30320586.

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, Tomonori Furukawa, Kazuhiro Haginoya, Hideki Hoshino, Tomohide Goto, Yasuo Hachiya, Takanori Yamagata, Shinji Saitoh, Toshiro Nagai, Kiyomi Nishiyama, Akira Nishimura, Noriko Miyake, Masayuki Komada, Kenji Hayashi, Syu-ichi Hirai, Kazuhiro Ogata, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto

Am J Hum Genet. 2010 Jun 11; 86(6): 881–891. doi: 10.1016/j.ajhg.2010.04.013

PMCID:: PMC3032058

Abstract Article PDF–1.5M

Select item 3630707.

Comparison of nonerythroid alpha-spectrin genes reveals strict homology among diverse species.

T L Leto, D Fortugno-Erikson, D Barton, T L Yang-Feng, U Francke, A S Harris, J S Morrow, V T Marchesi, E J Benz, Jr

Mol Cell Biol. 1988 Jan; 8(1): 1–9. doi: 10.1128/mcb.8.1.1

PMCID:: PMC363070

Summary Page Browse PDF–1.2M

Select item 2823678.

Chromosomal location of three spectrin genes: relationship to the inherited hemolytic anemias of mouse and man.

C S Birkenmeier, E C McFarland-Starr, J E Barker

Proc Natl Acad Sci U S A. 1988 Nov; 85(21): 8121–8125. doi: 10.1073/pnas.85.21.8121

PMCID:: PMC282367

Summary Page Browse PDF–1.0M

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