Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area. (Record no. 21244043)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01727 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516061540.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201204s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1433-0350 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00381-011-1592-9 |
| 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 | Polizzi, Agata |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120423 |
| 245 00 - TITLE STATEMENT | |
| Title | Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery |
| Date of publication, distribution, etc. | Jan 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 141-5 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy, Generalized |
| 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 | 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 | 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 | Pedigree |
| 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 | Receptors, GABA-A |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures, Febrile |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sodium Channels |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Voltage-Gated Sodium Channel beta-1 Subunit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Incorpora, Gemma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pavone, Piero |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruggieri, Martino |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Annesi, Grazia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gambardella, Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pavone, Lorenzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quattrone, Aldo |
| 773 0# - HOST ITEM ENTRY | |
| Title | Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery |
| Related parts | vol. 28 |
| -- | no. 1 |
| -- | p. 141-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00381-011-1592-9">https://doi.org/10.1007/s00381-011-1592-9</a> |
| Public note | Available from publisher's website |
No items available.