| 000 | 01412 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250513230942.0 | ||
| 264 | 0 | _c20010222 | |
| 008 | 200102s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1038/sj.ejhg.5200570 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMiraglia del Giudice, E | |
| 245 | 0 | 0 |
_aBenign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cDec 2000 |
||
| 300 |
_a994-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aEpilepsy, Benign Neonatal _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aKCNQ2 Potassium Channel |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPotassium Channels _xgenetics |
| 650 | 0 | 4 | _aPotassium Channels, Voltage-Gated |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 700 | 1 | _aCoppola, G | |
| 700 | 1 | _aScuccimarra, G | |
| 700 | 1 | _aCirillo, G | |
| 700 | 1 | _aBellini, G | |
| 700 | 1 | _aPascotto, A | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 8 _gno. 12 _gp. 994-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.ejhg.5200570 _zAvailable from publisher's website |
| 999 |
_c11114016 _d11114016 |
||