Defining the phenotypic spectrum of SLC6A1 mutations. (Record no. 27962212)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03325 a2201105 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517193924.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201810s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1528-1167 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/epi.13986 |
| 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 | Johannesen, Katrine M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20181026 |
| 245 00 - TITLE STATEMENT | |
| Title | Defining the phenotypic spectrum of SLC6A1 mutations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Epilepsia |
| Date of publication, distribution, etc. | 02 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 389-402 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; 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 | Anticonvulsants |
| General subdivision | therapeutic use |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ataxia |
| General subdivision | complications |
| 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 | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electroencephalography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsies, Myoclonic |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsies, Partial |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy, Generalized |
| General subdivision | complications |
| 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 | GABA Plasma Membrane Transport Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 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 | Intellectual Disability |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Language Development Disorders |
| General subdivision | complications |
| 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 | 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 | Neurodevelopmental Disorders |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Treatment Outcome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Valproic Acid |
| General subdivision | therapeutic use |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gardella, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Linnankivi, Tarja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Courage, Carolina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Saint Martin, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lehesjoki, Anna-Elina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mignot, Cyril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Afenjar, Alexandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lesca, Gaetan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abi-Warde, Marie-Thérèse |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chelly, Jamel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piton, Amélie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Merritt, J Lawrence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodan, Lance H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tan, Wen-Hann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bird, Lynne M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nespeca, Mark |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gleeson, Joseph G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yoo, Yongjin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Choi, Murim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chae, Jong-Hee |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Czapansky-Beilman, Desiree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reichert, Sara Chadwick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pendziwiat, Manuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verhoeven, Judith S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schelhaas, Helenius J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Devinsky, Orrin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Christensen, Jakob |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Specchio, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trivisano, Marina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weber, Yvonne G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nava, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keren, Boris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Doummar, Diane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schaefer, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hopkins, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dubbs, Holly |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaw, Jessica E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pisani, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Myers, Candace T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tang, Sha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tang, Shan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pal, Deb K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Millichap, John J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carvill, Gemma L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Kathrine L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mecarelli, Oriano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Striano, Pasquale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Ingo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rubboli, Guido |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mefford, Heather C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møller, Rikke S |
| 773 0# - HOST ITEM ENTRY | |
| Title | Epilepsia |
| Related parts | vol. 59 |
| -- | no. 2 |
| -- | p. 389-402 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/epi.13986">https://doi.org/10.1111/epi.13986</a> |
| Public note | Available from publisher's website |
No items available.