Associated Papers
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S et al.
Nature Genetics, 2015
25751627 (PubMed )
Supplement: NIHMS62156-supplement-3.xls › patient_1
Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.
Parcerisas A et al.
Journal of Alzheimer's Disease : Jad, 2014
25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P1H
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A et al.
Plos One, 2013
23667635 (PubMed )
Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all
Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.
Dassau L et al.
The Journal of Biological Chemistry, 2011
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
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