Reactions 1933, p258 - 19 Nov 2022 1

Lacosamide/oxcarbazepine S

Lack of efficacy: case report

An adolescent girl [exact age not stated] exhibited lack of efficacy during treatment with lacosamide and oxcarbazepine for
seizures [dosages and routes not stated].
The girl was born at 39 weeks after an uncomplicated full-term pregnancy. Thereafter, her developmental history was normal until
the age of 3 years, when she developed hyperpyrexia along with repeated limb twitching and seizures. Thereafter, her language and
motor ability regressed significantly. Therefore, she was treated with topiramate. However, the seizures were not well-controlled.
Thereafter, the dose of topiramate was increased, which controlled her seizures. Additionally, an improvement in language and
motor ability was noted. She continued to have prominent mental retardation. Therefore, she pursued educated in a special school.
Thereafter, she exhibited slight muscle weakness in both lower legs and was prone to fall while walking on uneven roads. At the age
of 13 years, her seizures became frequent again. Additionally, she noted to have limb clonus along with head-nodding. Therefore,
she started receiving optimal doses of lacosamide and oxcarbazepine, along with topiramate. However, in spite of receiving
lacosamide and oxcarbazepine, she continued to experience two-to-three seizure episodes per month. Thus, lack of efficacy with
lacosamide and oxcarbazepine was considered. Upon further evaluation, including next-generation sequencing at the age of
19 years, a missense variant in the DYNC1H1 gene (c.931C greater than T, p.H311Y) (NM_001376.4) was identified. Based on
laboratory findings, the diagnosis of epilepsy associated with DYNC1H1 variants was made.
Ji C, et al. Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy. Neurological Sciences 43: 2853-2858, No. 4, Apr
2022. Available from: URL: http://doi.org/10.1007/s10072-021-05824-9 803726570

0114-9954/22/1933-0001/$14.95 Adis © 2022 Springer Nature Switzerland AG. All rights reserved Reactions 19 Nov 2022 No. 1933