| 000 | 02681 a2200901 4500 | ||
|---|---|---|---|
| 005 | 20250516210311.0 | ||
| 264 | 0 | _c20140808 | |
| 008 | 201408s 0 0 eng d | ||
| 022 | _a1546-1718 | ||
| 024 | 7 |
_a10.1038/ng.2952 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNava, Caroline | |
| 245 | 0 | 0 |
_aDe novo mutations in HCN1 cause early infantile epileptic encephalopathy. _h[electronic resource] |
| 260 |
_bNature genetics _cJun 2014 |
||
| 300 |
_a640-5 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAicardi Syndrome _xgenetics |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aCHO Cells |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aCricetinae |
| 650 | 0 | 4 | _aCricetulus |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperpolarization-Activated Cyclic Nucleotide-Gated Channels _xgenetics |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPatch-Clamp Techniques |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aPotassium Channels _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 650 | 0 | 4 |
_aSpasms, Infantile _xgenetics |
| 700 | 1 | _aDalle, Carine | |
| 700 | 1 | _aRastetter, Agnès | |
| 700 | 1 | _aStriano, Pasquale | |
| 700 | 1 | _ade Kovel, Carolien G F | |
| 700 | 1 | _aNabbout, Rima | |
| 700 | 1 | _aCancès, Claude | |
| 700 | 1 | _aVille, Dorothée | |
| 700 | 1 | _aBrilstra, Eva H | |
| 700 | 1 | _aGobbi, Giuseppe | |
| 700 | 1 | _aRaffo, Emmanuel | |
| 700 | 1 | _aBouteiller, Delphine | |
| 700 | 1 | _aMarie, Yannick | |
| 700 | 1 | _aTrouillard, Oriane | |
| 700 | 1 | _aRobbiano, Angela | |
| 700 | 1 | _aKeren, Boris | |
| 700 | 1 | _aAgher, Dahbia | |
| 700 | 1 | _aRoze, Emmanuel | |
| 700 | 1 | _aLesage, Suzanne | |
| 700 | 1 | _aNicolas, Aude | |
| 700 | 1 | _aBrice, Alexis | |
| 700 | 1 | _aBaulac, Michel | |
| 700 | 1 | _aVogt, Cornelia | |
| 700 | 1 | _aEl Hajj, Nady | |
| 700 | 1 | _aSchneider, Eberhard | |
| 700 | 1 | _aSuls, Arvid | |
| 700 | 1 | _aWeckhuysen, Sarah | |
| 700 | 1 | _aGormley, Padhraig | |
| 700 | 1 | _aLehesjoki, Anna-Elina | |
| 700 | 1 | _aDe Jonghe, Peter | |
| 700 | 1 | _aHelbig, Ingo | |
| 700 | 1 | _aBaulac, Stéphanie | |
| 700 | 1 | _aZara, Federico | |
| 700 | 1 | _aKoeleman, Bobby P C | |
| 700 | 1 | _aHaaf, Thomas | |
| 700 | 1 | _aLeGuern, Eric | |
| 700 | 1 | _aDepienne, Christel | |
| 773 | 0 |
_tNature genetics _gvol. 46 _gno. 6 _gp. 640-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.2952 _zAvailable from publisher's website |
| 999 |
_c23751647 _d23751647 |
||