News Finding: aEURoeThat is why identifying each mutation in the ion channel is important for diagnosing the individual epilepsy syndrome and finding ways of treating it,aEUR says Professor Holger Lerche, of TA 1/4 bingenaEUR(tm)s Hertie Institute for Clinical Brain Research (HIH) and medical director of Neurology and Epileptology at the TA 1/4 bingen University Hospitals.
Paper Finding: Screening a pilot cohort of 33 patients, we identified mutations in known epilepsy-related genes in 16 cases 17 .
News Context: aEURoeThe potassium channel KCNA2 is one of many channels. aEURoeThat is why identifying each mutation in the ion channel is important for diagnosing the individual epilepsy syndrome and finding ways of treating it,aEUR says Professor Holger Lerche, of TA 1/4 bingenaEUR(tm)s Hertie Institute for Clinical Brain Research (HIH) and medical director of Neurology and Epileptology at the TA 1/4 bingen University Hospitals. The researchers discovered that the mutations disrupt the ion channelaEUR(tm)s function either by cutting the flow of potassium, leading to a loss of function; or by increasing potassium flow, leading to an excess gain of function.
Paper Context: Therefore, potassium channel genes represent interesting candidates for neurodevelopmental disorders. Screening a pilot cohort of 33 patients, we identified mutations in known epilepsy-related genes in 16 cases 17 . We evaluated the remaining 17 cases for mutations in candidate genes (Supplementary Note), which led to the detection of a heterozygous de novo mutation in KCNA2, c.1214C>T (encoding p.Pro405Leu), affecting the highly conserved pore domain of the voltage-gated potassium channel K V 1.2 (NM_004974, CCDS827).