| 000 | 01412 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250516045830.0 | ||
| 264 | 0 | _c20120730 | |
| 008 | 201207s 0 0 eng d | ||
| 022 | _a1532-2688 | ||
| 024 | 7 |
_a10.1016/j.seizure.2011.06.014 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMhanni, A A | |
| 245 | 0 | 0 |
_aVariable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder. _h[electronic resource] |
| 260 |
_bSeizure _cNov 2011 |
||
| 300 |
_a711-2 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aEpilepsy _xdiagnosis |
| 650 | 0 | 4 | _aGene Expression Regulation |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 |
_aGenetic Variation _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeucine _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aNAV1.1 Voltage-Gated Sodium Channel |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xbiosynthesis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSeizures, Febrile _xdiagnosis |
| 650 | 0 | 4 |
_aSodium Channels _xbiosynthesis |
| 650 | 0 | 4 |
_aValine _xgenetics |
| 700 | 1 | _aHartley, J N | |
| 700 | 1 | _aSanger, W G | |
| 700 | 1 | _aChudley, A E | |
| 700 | 1 | _aSpriggs, E L | |
| 773 | 0 |
_tSeizure _gvol. 20 _gno. 9 _gp. 711-2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.seizure.2011.06.014 _zAvailable from publisher's website |
| 999 |
_c21022254 _d21022254 |
||