Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. (Record no. 22993261)
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fixed length control field | 03392 a2201165 4500 |
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control field | 20250516163750.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201311s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1546-1718 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1038/ng.2728 |
Source of number or code | doi |
040 ## - CATALOGING SOURCE | |
Original cataloging agency | NLM |
Language of cataloging | eng |
Transcribing agency | NLM |
100 1# - MAIN ENTRY--PERSONAL NAME | |
Personal name | Lemke, Johannes R |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20131126 |
245 00 - TITLE STATEMENT | |
Title | Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Nature genetics |
Date of publication, distribution, etc. | Sep 2013 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 1067-72 p. |
Other physical details | digital |
500 ## - GENERAL NOTE | |
General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Amino Acid Substitution |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Epilepsies, Partial |
General subdivision | diagnosis |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Female |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Humans |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Male |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Models, Molecular |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Mutation |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Mutation, Missense |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Pedigree |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Protein Conformation |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Receptors, N-Methyl-D-Aspartate |
General subdivision | chemistry |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lal, Dennis |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Reinthaler, Eva M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Steiner, Isabelle |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nothnagel, Michael |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Alber, Michael |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Geider, Kirsten |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Laube, Bodo |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Schwake, Michael |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Finsterwalder, Katrin |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Franke, Andre |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Schilhabel, Markus |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jähn, Johanna A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Muhle, Hiltrud |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Boor, Rainer |
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Personal name | Caraballo, Roberto |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Fejerman, Natalio |
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Personal name | Weckhuysen, Sarah |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | De Jonghe, Peter |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Larsen, Jan |
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Personal name | Møller, Rikke S |
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Personal name | Tang, Shan |
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Personal name | Hughes, Elaine |
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Personal name | Veri, Kadi |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Vaher, Ulvi |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Talvik, Tiina |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Dimova, Petia |
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Personal name | Guerrero López, Rosa |
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Personal name | Serratosa, José M |
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Personal name | Linnankivi, Tarja |
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Personal name | Lehesjoki, Anna-Elina |
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Personal name | Ruf, Susanne |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wolff, Markus |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Buerki, Sarah |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wohlrab, Gabriele |
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Personal name | Kroell, Judith |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Datta, Alexandre N |
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Personal name | Fiedler, Barbara |
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Personal name | Kurlemann, Gerhard |
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Personal name | Kluger, Gerhard |
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Personal name | Hahn, Andreas |
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Personal name | Haberlandt, D Edda |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kutzer, Christina |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sperner, Jürgen |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Becker, Felicitas |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Weber, Yvonne G |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Feucht, Martha |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Steinböck, Hannelore |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Neophythou, Birgit |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ronen, Gabriel M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gruber-Sedlmayr, Ursula |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Geldner, Julia |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Harvey, Robert J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hoffmann, Per |
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Personal name | Herms, Stefan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Altmüller, Janine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Toliat, Mohammad R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Thiele, Holger |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nürnberg, Peter |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wilhelm, Christian |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Stephani, Ulrich |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Helbig, Ingo |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lerche, Holger |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zimprich, Fritz |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Neubauer, Bernd A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Biskup, Saskia |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | von Spiczak, Sarah |
773 0# - HOST ITEM ENTRY | |
Title | Nature genetics |
Related parts | vol. 45 |
-- | no. 9 |
-- | p. 1067-72 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.2728">https://doi.org/10.1038/ng.2728</a> |
Public note | Available from publisher's website |
No items available.