A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern. (Record no. 23211694)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01649 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516175607.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201409s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1708-8283 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1177/0883073813506936 |
| 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 | Romaniello, Romina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140925 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of child neurology |
| Date of publication, distribution, etc. | Feb 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 249-53 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; 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 | Anticonvulsants |
| General subdivision | therapeutic use |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | drug effects |
| 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 | 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 | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Munc18 Proteins |
| General subdivision | chemistry |
| 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 | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | drug therapy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Alignment |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spasms, Infantile |
| General subdivision | drug therapy |
| 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 | Vigabatrin |
| General subdivision | therapeutic use |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zucca, Claudio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tenderini, Erika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arrigoni, Filippo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ragona, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zorzi, Giovanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bassi, Maria Teresa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Borgatti, Renato |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of child neurology |
| Related parts | vol. 29 |
| -- | no. 2 |
| -- | p. 249-53 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1177/0883073813506936">https://doi.org/10.1177/0883073813506936</a> |
| Public note | Available from publisher's website |
No items available.