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Pathophysiologische Mechanismen genetischer Epilepsien
UploadMutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia
Download from link.springer.comDe novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Download from www.nature.comA recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy (vol 47, pg 39, 2015)
UploadA recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Download from www.nature.comDominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
Download from www.researchgate.netPotassium channel genes and benign familial neonatal epilepsy
Download from dx.doi.orgIonenkanalerkrankungen des Gehirns – monogene Epilepsien
UploadParoxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect
Download from www.researchgate.netChannelopathies in Epileptology
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