| 000 | 01692 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250517062034.0 | ||
| 264 | 0 | _c20160907 | |
| 008 | 201609s 0 0 eng d | ||
| 022 | _a1439-1899 | ||
| 024 | 7 |
_a10.1055/s-0035-1564791 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _avan de Pol, Laura A | |
| 245 | 0 | 0 |
_aEarly-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. _h[electronic resource] |
| 260 |
_bNeuropediatrics _cDec 2015 |
||
| 300 |
_a392-400 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 |
_aBrain Diseases _xgenetics |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aElectroencephalography |
| 650 | 0 | 4 |
_aEpilepsy _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aInfant, Premature |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRetrospective Studies |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 650 | 0 | 4 | _aSiblings |
| 700 | 1 | _aWolf, Nicole I | |
| 700 | 1 | _avan Weissenbruch, Mirjam M | |
| 700 | 1 | _aStam, Cornelie J | |
| 700 | 1 | _aWeiss, Janneke M | |
| 700 | 1 | _aWaisfisz, Quinten | |
| 700 | 1 | _aKevelam, Sietske H | |
| 700 | 1 | _aBugiani, Mariana | |
| 700 | 1 | _avan de Kamp, Jiddeke M | |
| 700 | 1 | _avan der Knaap, Marjo S | |
| 773 | 0 |
_tNeuropediatrics _gvol. 46 _gno. 6 _gp. 392-400 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1055/s-0035-1564791 _zAvailable from publisher's website |
| 999 |
_c25417704 _d25417704 |
||