GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. (Record no. 23635090)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02039 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516202324.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201406s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1526-632X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1212/WNL.0000000000000291 |
| 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 | Carvill, Gemma L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140618 |
| 245 00 - TITLE STATEMENT | |
| Title | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurology |
| Date of publication, distribution, etc. | Apr 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1245-53 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsies, Myoclonic |
| General subdivision | genetics |
| 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 | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 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 | Munc18 Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nerve Tissue Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, GABA-A |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weckhuysen, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McMahon, Jacinta M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hartmann, Corinna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møller, Rikke S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hjalgrim, Helle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cook, Joseph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geraghty, Eileen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Roak, Brian J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petrou, Steve |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clarke, Alison |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gill, Deepak |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sadleir, Lynette G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muhle, Hiltrud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | von Spiczak, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nikanorova, Marina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hodgson, Bree L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gazina, Elena V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Suls, Arvid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shendure, Jay |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dibbens, Leanne M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Jonghe, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Ingo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berkovic, Samuel F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer, Ingrid E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mefford, Heather C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurology |
| Related parts | vol. 82 |
| -- | no. 14 |
| -- | p. 1245-53 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1212/WNL.0000000000000291">https://doi.org/10.1212/WNL.0000000000000291</a> |
| Public note | Available from publisher's website |
No items available.