| 000 | 02075 a2200649 4500 | ||
|---|---|---|---|
| 005 | 20250516222222.0 | ||
| 264 | 0 | _c20140827 | |
| 008 | 201408s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2014.06.006 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aThevenon, Julien | |
| 245 | 0 | 0 |
_aMutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJul 2014 |
||
| 300 |
_a113-20 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aBrain Diseases _xcomplications |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSeizures _xetiology |
| 650 | 0 | 4 |
_aSymporters _xgenetics |
| 700 | 1 | _aMilh, Mathieu | |
| 700 | 1 | _aFeillet, François | |
| 700 | 1 | _aSt-Onge, Judith | |
| 700 | 1 | _aDuffourd, Yannis | |
| 700 | 1 | _aJugé, Clara | |
| 700 | 1 | _aRoubertie, Agathe | |
| 700 | 1 | _aHéron, Delphine | |
| 700 | 1 | _aMignot, Cyril | |
| 700 | 1 | _aRaffo, Emmanuel | |
| 700 | 1 | _aIsidor, Bertrand | |
| 700 | 1 | _aWahlen, Sandra | |
| 700 | 1 | _aSanlaville, Damien | |
| 700 | 1 | _aVilleneuve, Nathalie | |
| 700 | 1 | _aDarmency-Stamboul, Véronique | |
| 700 | 1 | _aToutain, Annick | |
| 700 | 1 | _aLefebvre, Mathilde | |
| 700 | 1 | _aChouchane, Mondher | |
| 700 | 1 | _aHuet, Frédéric | |
| 700 | 1 | _aLafon, Arnaud | |
| 700 | 1 | _ade Saint Martin, Anne | |
| 700 | 1 | _aLesca, Gaetan | |
| 700 | 1 | _aEl Chehadeh, Salima | |
| 700 | 1 | _aThauvin-Robinet, Christel | |
| 700 | 1 | _aMasurel-Paulet, Alice | |
| 700 | 1 | _aOdent, Sylvie | |
| 700 | 1 | _aVillard, Laurent | |
| 700 | 1 | _aPhilippe, Christophe | |
| 700 | 1 | _aFaivre, Laurence | |
| 700 | 1 | _aRivière, Jean-Baptiste | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 95 _gno. 1 _gp. 113-20 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2014.06.006 _zAvailable from publisher's website |
| 999 |
_c23982121 _d23982121 |
||