One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. (Record no. 20668450)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01562 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516030047.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201108s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1872-7972 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.neulet.2011.03.008 |
| 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 | Yordanova, Iglika |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110802 |
| 245 00 - TITLE STATEMENT | |
| Title | One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neuroscience letters |
| Date of publication, distribution, etc. | Apr 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 180-3 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Age of Onset |
| 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 | 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 | Electroencephalography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsies, Myoclonic |
| General subdivision | drug therapy |
| 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 | Frameshift Mutation |
| 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 | Male |
| 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 | NAV1.1 Voltage-Gated Sodium Channel |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sodium Channels |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Todorov, Tihomir |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dimova, Petia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hristova, Dimitrina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tincheva, Radka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Litvinenko, Ivan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yotovska, Olga |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremensky, Ivo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Todorova, Albena |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neuroscience letters |
| Related parts | vol. 494 |
| -- | no. 2 |
| -- | p. 180-3 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.neulet.2011.03.008">https://doi.org/10.1016/j.neulet.2011.03.008</a> |
| Public note | Available from publisher's website |
No items available.