| 000 | 01524 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250517213856.0 | ||
| 264 | 0 | _c20190614 | |
| 008 | 201906s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.23547 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWagnon, Jacy L | |
| 245 | 0 | 0 |
_aPartial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. _h[electronic resource] |
| 260 |
_bHuman mutation _c07 2018 |
||
| 300 |
_a965-969 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aEpilepsy _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aLoss of Function Mutation _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMyoclonus _xgenetics |
| 650 | 0 | 4 |
_aNAV1.6 Voltage-Gated Sodium Channel _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSeizures _xgenetics |
| 700 | 1 | _aMencacci, Niccolò E | |
| 700 | 1 | _aBarker, Bryan S | |
| 700 | 1 | _aWengert, Eric R | |
| 700 | 1 | _aBhatia, Kailash P | |
| 700 | 1 | _aBalint, Bettina | |
| 700 | 1 | _aCarecchio, Miryam | |
| 700 | 1 | _aWood, Nicholas W | |
| 700 | 1 | _aPatel, Manoj K | |
| 700 | 1 | _aMeisler, Miriam H | |
| 773 | 0 |
_tHuman mutation _gvol. 39 _gno. 7 _gp. 965-969 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.23547 _zAvailable from publisher's website |
| 999 |
_c28356717 _d28356717 |
||