| 000 | 01649 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250516175607.0 | ||
| 264 | 0 | _c20140925 | |
| 008 | 201409s 0 0 eng d | ||
| 022 | _a1708-8283 | ||
| 024 | 7 |
_a10.1177/0883073813506936 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRomaniello, Romina | |
| 245 | 0 | 0 |
_aA novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern. _h[electronic resource] |
| 260 |
_bJournal of child neurology _cFeb 2014 |
||
| 300 |
_a249-53 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAnticonvulsants _xtherapeutic use |
| 650 | 0 | 4 |
_aBrain _xdrug effects |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aElectroencephalography |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMunc18 Proteins _xchemistry |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aSeizures _xdrug therapy |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 |
_aSpasms, Infantile _xdrug therapy |
| 650 | 0 | 4 | _aTreatment Outcome |
| 650 | 0 | 4 |
_aVigabatrin _xtherapeutic use |
| 700 | 1 | _aZucca, Claudio | |
| 700 | 1 | _aTenderini, Erika | |
| 700 | 1 | _aArrigoni, Filippo | |
| 700 | 1 | _aRagona, Francesca | |
| 700 | 1 | _aZorzi, Giovanna | |
| 700 | 1 | _aBassi, Maria Teresa | |
| 700 | 1 | _aBorgatti, Renato | |
| 773 | 0 |
_tJournal of child neurology _gvol. 29 _gno. 2 _gp. 249-53 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1177/0883073813506936 _zAvailable from publisher's website |
| 999 |
_c23211694 _d23211694 |
||