Bi‐allelic loss‐of‐function variants in LAMC3, encoding extracellular matrix protein laminin gamma 3, represent a rare cause of occipital polymicrogyria with epilepsy, developmental delay and cognitive impairment. So far, only five families have been reported. We now identified a novel, homozygous splice variant in LAMC3 in an individual with an unusual manifestation of cortical malformation. She presented with polymicrogyria in the frontal but not the occipital lobes, with adult‐onset seizures and normal psychomotor development and cognition. Additionally, ictal asystole, requiring implantation of a pacemaker, and nonepileptic seizures occurred. This case expands the spectrum of LAMC3‐associated cortical malformation phenotypes to frontal only polymicrogyria and adult‐onset of epilepsy.

中文翻译：

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一种新型的剪接变体将与LAMC3相关的皮质表型扩展至仅额叶多微回和成年发作的癫痫。

编码细胞外基质蛋白层粘连蛋白γ3的LAMC3中的双等位基因功能丧失变体代表枕下多小胶质细胞少见，并伴有癫痫，发育延迟和认知障碍。迄今为止，仅报道了五个家庭。现在，我们在具有皮层畸形异常表现的个体中在LAMC3中鉴定了一种新型的纯合剪接变体。她的额叶表现为多发性小生殖细胞，但枕叶不表现为多发性生殖器，伴有成年发作，精神运动发育和认知正常。此外，发生了需要植入起搏器的小动脉搏动和无癫痫发作。这种情况扩大了LAMC3的范围与皮质额叶畸形表型相关的仅额叶多头回和成年发作的癫痫。