Kriscenski-Perry Elizabeth, Kovács Attila D, Pearce David A
Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
J Child Neurol. 2013 Sep;28(9):1137-41. doi: 10.1177/0883073813493667. Epub 2013 Jul 9.
We examined flurothyl gas-induced seizure latencies and phenotype in 2 mouse models of neuronal ceroid lipofuscinoses: the nclf (Cln6 mutant) variant late-infantile model and the mnd (Cln8 mutant) Northern epilepsy model. Mnd mice on postnatal days 35 to 42 had increased latency to loss of posture compared with wild-type controls. Nclf, mnd, and wild-type mice on postnatal days 21 days to 25 displayed similar latency profiles during repeated seizure induction (kindling) and retesting; seizure phenotypes were different, however. Kindled wild-type mice reexposed to flurothyl after a 28-day recovery displayed brainstem generalized seizures exclusively. Neuronal ceroid lipofuscinoses mutants demonstrated a lack of brainstem seizures at retesting after 28 days. Repeated induction of generalized seizures delayed weight gain in both nclf and mnd mice compared with wild-type mice. These and our previous results suggest that abnormal seizure-related neuronal connectivity and/or plasticity are shared characteristics of the neuronal ceroid lipofuscinoses.
nclf（Cln6突变体）变异型晚发性婴儿模型和mnd（Cln8突变体）北方癫痫模型。与野生型对照相比，出生后35至42天的mnd小鼠失去姿势的潜伏期增加。出生后21至25天的nclf、mnd和野生型小鼠在反复癫痫诱导（点燃）和重新测试期间表现出相似的潜伏期特征；然而，癫痫发作表型不同。在28天恢复后重新暴露于氟烷的点燃野生型小鼠仅表现出脑干全身性癫痫发作。神经元蜡样脂褐质沉积症突变体在28天后重新测试时未出现脑干癫痫发作。与野生型小鼠相比，反复诱导全身性癫痫发作会延迟nclf和mnd小鼠的体重增加。这些以及我们之前的结果表明，异常的癫痫相关神经元连接和/或可塑性是神经元蜡样脂褐质沉积症的共同特征。
