مورد إلكتروني
In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission
| العنوان: | In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission |
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| المؤلفون: | Tomlinson, SE, Bostock, H, Grinton, B, Hanna, MG, Kullmann, DM, Kiernan, MC, Scheffer, IE, Berkovic, SF, Burke, D |
| بيانات النشر: | OXFORD UNIV PRESS 2012-10-01 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Benign familial neonatal epilepsy is a neuronal channelopathy most commonly caused by mutations in KCNQ2, which encodes the K(v)7.2 subunit of the slow K(+) channel. K(v)7.2 is expressed in both central and peripheral nervous systems. Seizures occur in the neonatal period, often in clusters within the first few days of life, and usually remit by 12 months of age. The mechanism of involvement of K(v)7.2 mutations in the process of seizure generation has not been established in vivo. In peripheral axons, K(v)7.2 contributes to the nodal slow K(+) current. The present study aimed to determine whether axonal excitability studies could detect changes in peripheral nerve function related to dysfunction or loss of slow potassium channel activity. Nerve excitability studies were performed on eight adults with KCNQ2 mutations and a history of benign familial neonatal epilepsy, now in remission. Studies detected distinctive changes in peripheral nerve, indicating a reduction in slow K(+) current. Specifically, accommodation to long-lasting depolarizing currents was reduced in mutation carriers by 24% compared with normal controls, and the threshold undershoot after 100 ms depolarizing currents was reduced by 22%. Additional changes in excitability included a reduction in the relative refractory period, an increase in superexcitability and a tendency towards reduced sub-excitability. Modelling of the nerve excitability changes suggested that peripheral nerve hyperexcitability may have been ameliorated by upregulation of other potassium channels. We conclude that subclinical dysfunction of K(v)7.2 in peripheral axons can be reliably detected non-invasively in adulthood. Related alterations in neuronal excitability may contribute to epilepsy associated with KCNQ2 mutations. |
| مصطلحات الفهرس: | epilepsy, channelopathy, nerve excitability, neuromyotonia, potassium channel, Journal Article |
| URL: | NHMRC/466671 |
| الإتاحة: | Open access content. Open access content |
| أرقام أخرى: | UMV oai:jupiter.its.unimelb.edu.au:11343/41357 Tomlinson, S. E., Bostock, H., Grinton, B., Hanna, M. G., Kullmann, D. M., Kiernan, M. C., Scheffer, I. E., Berkovic, S. F. & Burke, D. (2012). In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. BRAIN, 135 (Pt 10), pp.3144-3152. https://doi.org/10.1093/brain/aws241. 10.1093/brain/aws241 1460-2156 0006-8950 1315689556 |
| المصدر المساهم: | UNIV OF MELBOURNE From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1315689556 |
| قاعدة البيانات: | OAIster |
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