Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. (Record no. 29542696)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01745 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518032342.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202003s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1531-8249 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ana.25477 |
| 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 | Stergachis, Andrew B |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200330 |
| 245 00 - TITLE STATEMENT | |
| Title | Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Annals of neurology |
| Date of publication, distribution, etc. | 06 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 921-926 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 Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ceftriaxone |
| General subdivision | therapeutic use |
| 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 | Epilepsy, Generalized |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Excitatory Amino Acid Transporter 2 |
| General subdivision | chemistry |
| 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 Variation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HEK293 Cells |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn |
| 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 | Protein Structure, Secondary |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pujol-Giménez, Jonai |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gyimesi, Gergely |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fuster, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Albano, Giusppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Troxler, Marina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Picker, Jonathan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosenberg, Paul A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bergin, Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peters, Jurriaan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Achkar, Christelle Moufawad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harini, Chellamani |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manzi, Shannon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rotenberg, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hediger, Matthias A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodan, Lance H |
| 773 0# - HOST ITEM ENTRY | |
| Title | Annals of neurology |
| Related parts | vol. 85 |
| -- | no. 6 |
| -- | p. 921-926 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ana.25477">https://doi.org/10.1002/ana.25477</a> |
| Public note | Available from publisher's website |
No items available.