Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy
Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy
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DOI：
10.1684/epd.2016.0849
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发表时间：
2016-09-01
影响因子：
2.3
通讯作者：
Troester, Matthew
中科院分区：
文献类型：
--
作者：
Appavu, Brian;Guido-Estrada, Natalie;Troester, Matthew
TBC1D24 是一种新发现的基因，其变异会导致多种临床表型，包括耐药性癫痫。我们报告了四名患有 TBC1D24 新变异的患者，这些患者表现出耐药性局灶性癫痫、发育迟缓和头部生长减慢。所有患者的癫痫症状包括手臂、腿部或面部的长期、单侧、局灶性阵挛活动，以及全身阵挛或肌阵挛性癫痫发作。发作期脑电图特征包括持续性部分性癫痫、伴有迁移性局灶性癫痫发作的婴儿期癫痫以及具有不离散的发作间期过渡的其他局灶性癫痫发作。两名看似无关、具有相同变异的纳瓦霍患者在 9 个月大时经历了超难治性癫痫持续状态，其中一名患者通过生酮饮食疗法得到了缓解。我们的系列研究表明，TBC1D24 相关癫痫可表现为肌张力低下、发育迟缓和各种易于发生电临床分离的局灶性癫痫发作。
TBC1D24 is a newly recognized gene in which variations lead to variable clinical phenotypes including drug-resistant epilepsy. We report four patients with novel variants of TBC1D24 demonstrating drug-resistant focal epilepsy, developmental delays, and head growth deceleration. All patients had seizure semiologies consisting of prolonged, unilateral, focal clonic activity of the arm, leg or face, in addition to generalized clonic or myoclonic seizures. Ictal EEG characteristics included epilepsia partialis continua, epilepsy of infancy with migrating focal seizures, and other focal seizures with indiscrete interictal-ictal transitions. Two seemingly unrelated Navajo patients with identical variations experienced super-refractory status epilepticus at 9 months of age, with one achieving resolution with ketogenic diet therapy. Our series suggests that TBC1D24-related epilepsy can manifest with hypotonia, developmental delays, and a variety of focal-onset seizures prone to electroclinical dissociation.