De novo mutations in HCN1 cause early infantile epileptic encephalopathy. (Record no. 23751647)
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| fixed length control field | 02681 a2200901 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516210311.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201408s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.2952 |
| 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 | Nava, Caroline |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140808 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo mutations in HCN1 cause early infantile epileptic encephalopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Jun 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 640-5 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 | Aicardi Syndrome |
| General subdivision | genetics |
| 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | CHO Cells |
| 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 | Cricetinae |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cricetulus |
| 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 | 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 | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels |
| General subdivision | genetics |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Patch-Clamp Techniques |
| 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 | Potassium Channels |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Homology, Amino Acid |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spasms, Infantile |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dalle, Carine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rastetter, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Striano, Pasquale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Kovel, Carolien G F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nabbout, Rima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cancès, Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ville, Dorothée |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brilstra, Eva H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gobbi, Giuseppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raffo, Emmanuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bouteiller, Delphine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marie, Yannick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trouillard, Oriane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robbiano, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keren, Boris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Agher, Dahbia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roze, Emmanuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lesage, Suzanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nicolas, Aude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brice, Alexis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baulac, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vogt, Cornelia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Hajj, Nady |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schneider, Eberhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Suls, Arvid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weckhuysen, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gormley, Padhraig |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lehesjoki, Anna-Elina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Jonghe, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Ingo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baulac, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zara, Federico |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koeleman, Bobby P C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haaf, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | LeGuern, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Depienne, Christel |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 46 |
| -- | no. 6 |
| -- | p. 640-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.2952">https://doi.org/10.1038/ng.2952</a> |
| Public note | Available from publisher's website |
No items available.