Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. (Record no. 22769369)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02280 a2200721 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516151838.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201401s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1750-1172 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/1750-1172-8-80 |
| 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 | Milh, Mathieu |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140102 |
| 245 00 - TITLE STATEMENT | |
| Title | Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Orphanet journal of rare diseases |
| Date of publication, distribution, etc. | May 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 80 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 | Brain |
| General subdivision | diagnostic imaging |
| 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 | Epilepsy |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy, Benign Neonatal |
| General subdivision | diagnosis |
| 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 Predisposition to Disease |
| 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 | KCNQ2 Potassium Channel |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Radiography |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boutry-Kryza, Nadia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sutera-Sardo, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mignot, Cyril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Auvin, Stéphane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacoste, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Villeneuve, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roubertie, Agathe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heron, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carneiro, Maryline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaminska, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Altuzarra, Cécilia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blanchard, Gaëlle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ville, Dorothée |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barthez, Marie Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heron, Delphine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gras, Domitille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Afenjar, Alexandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dorison, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Doummar, Dianne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Billette de Villemeur, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | An, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacquette, Aurélia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Charles, Perrine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Perrier, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vercueil, Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chabrol, Brigitte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Badens, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lesca, Gaétan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Villard, Laurent |
| 773 0# - HOST ITEM ENTRY | |
| Title | Orphanet journal of rare diseases |
| Related parts | vol. 8 |
| -- | p. 80 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/1750-1172-8-80">https://doi.org/10.1186/1750-1172-8-80</a> |
| Public note | Available from publisher's website |
No items available.