Epileptic encephalopathy

Disease ID:319
Name:Epileptic encephalopathy
Associated with:1 target

Targets

Kv10.2
Role:  Unknown; this mutation produced a -70 mV shift in the voltage dependance of activation.
Comments:  The contribution of this variant to epileptic encephalopathy has not been confirmed.
References:  1-2
Mutations:  Kv10.2 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Epileptic encephalopathy

References

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1. Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S et al.. (2013) Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia, 54 (7): 1270-81. [PMID:23647072]

2. Yang Y, Vasylyev DV, Dib-Hajj F, Veeramah KR, Hammer MF, Dib-Hajj SD, Waxman SG. (2013) Multistate structural modeling and voltage-clamp analysis of epilepsy/autism mutation Kv10.2-R327H demonstrate the role of this residue in stabilizing the channel closed state. J. Neurosci., 33 (42): 16586-93. [PMID:24133262]