| 000 | 01580 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250516224216.0 | ||
| 264 | 0 | _c20141103 | |
| 008 | 201411s 0 0 eng d | ||
| 022 | _a1528-1167 | ||
| 024 | 7 |
_a10.1111/epi.12730 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFarhan, Sali M K | |
| 245 | 0 | 0 |
_aLinkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. _h[electronic resource] |
| 260 |
_bEpilepsia _cSep 2014 |
||
| 300 |
_ae106-11 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAtaxia _xcomplications |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 7 _xgenetics |
| 650 | 0 | 4 |
_aCysteine _xgenetics |
| 650 | 0 | 4 | _aElectroencephalography |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aMyoclonic Epilepsies, Progressive _xcomplications |
| 650 | 0 | 4 |
_aPotassium Channels _xgenetics |
| 650 | 0 | 4 |
_aTyrosine _xgenetics |
| 700 | 1 | _aMurphy, Lisa M | |
| 700 | 1 | _aRobinson, John F | |
| 700 | 1 | _aWang, Jian | |
| 700 | 1 | _aSiu, Victoria M | |
| 700 | 1 | _aRupar, C Anthony | |
| 700 | 1 | _aPrasad, Asuri N | |
| 700 | 1 | _aHegele, Robert A | |
| 773 | 0 |
_tEpilepsia _gvol. 55 _gno. 9 _gp. e106-11 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/epi.12730 _zAvailable from publisher's website |
| 999 |
_c24041356 _d24041356 |
||