000 01958 a2200589 4500
005 20250517025141.0
264 0 _c20150729
008 201507s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2015.02.016
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aCarvill, Gemma L
245 0 0 _aMutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cMay 2015
300 _a808-15 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAnimals
650 0 4 _aEpilepsies, Myoclonic
_xgenetics
650 0 4 _aEpilepsy, Generalized
_xgenetics
650 0 4 _aGABA Plasma Membrane Transport Proteins
_xgenetics
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aHigh-Throughput Nucleotide Sequencing
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMice
650 0 4 _aMutation
700 1 _aMcMahon, Jacinta M
700 1 _aSchneider, Amy
700 1 _aZemel, Matthew
700 1 _aMyers, Candace T
700 1 _aSaykally, Julia
700 1 _aNguyen, John
700 1 _aRobbiano, Angela
700 1 _aZara, Federico
700 1 _aSpecchio, Nicola
700 1 _aMecarelli, Oriano
700 1 _aSmith, Robert L
700 1 _aLeventer, Richard J
700 1 _aMøller, Rikke S
700 1 _aNikanorova, Marina
700 1 _aDimova, Petia
700 1 _aJordanova, Albena
700 1 _aPetrou, Steven
700 1 _aHelbig, Ingo
700 1 _aStriano, Pasquale
700 1 _aWeckhuysen, Sarah
700 1 _aBerkovic, Samuel F
700 1 _aScheffer, Ingrid E
700 1 _aMefford, Heather C
773 0 _tAmerican journal of human genetics
_gvol. 96
_gno. 5
_gp. 808-15
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2015.02.016
_zAvailable from publisher's website
999 _c24796485
_d24796485