웹2024년 5월 28일 · Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and MutationsKCNJ10 n engl j med 360;19 nejm.org may 7, 2009 1961 T he study of molecular defects in rare inherited renal tubular diseases has 웹2011년 9월 12일 · In 5 patients from 4 families with a complex syndrome comprising seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance, Scholl et al. (2009) identified 6 different homozygous or compound heterozygous mutations in the KCNJ10 gene (602208.0001-602208.0006). In affected members of a Pakistani family …
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웹The physiological control of steroid hormone secretion from the adrenal cortex depends on the function of potassium channels. The "two-pore domain K(+) channels" (K2P) TWIK-related acid sensitive K(+) channel 1 (TASK1), TASK3, and TWIK-related K(+) channel 1 (TREK1) are strongly expressed in adrenoc … 웹Falls nicht anders bezeichnet, ist der Inhalt dieses Wikis unter der folgenden Lizenz veröffentlicht: CC Attribution 4.0 International CC Attribution 4.0 International 웹2024년 2월 13일 · Seizures are a pathophysiological feature of malignant glioma and contribute to tumor progression. Employing a human-to-mouse in vivo functionalization pipeline, we identify IGSF3 as a regulator of glioma progression and brain network hyperactivity. Associated potassium dysregulation contributes to network hyperactivity, … hs51625tth-dp/4af