Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

Sarah Weckhuysen, Philip Holmgren, Rik Hendrickx, Anna C Jansen, Daniele Hasaerts, Charlotte Dielman, Julitta de Bellescize, Nadia Boutry-Kryza, Gaetan Lesca, Sarah Von Spiczak, Ingo Helbig, Deepak Gill, Simone Yendle, Rikke S Møller, Laura Klitten, Christian Korff, Catherine Godfraind, Kenou Van Rijckevorsel, Peter De Jonghe, Helle Hjalgrim, Ingrid E Scheffer, Arvid Suls
Epilepsia 2013, 54 (5): e74-80
Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated. Therefore, we screened a cohort of 160 patients with an unexplained EE, including patients with early myoclonic encephalopathy (EME), Ohtahara syndrome, West syndrome, nonsyndromic EE with onset in the first year, and Lennox-Gastaut syndrome (LGS). We found six de novo mutations in six patients presenting as Ohtahara syndrome (2/6, 33%), West syndrome (1/65, 2%), and nonsyndromic early onset EE (3/64, 5%). No mutations were found in LGS or EME. Only two of four mutation carriers with neonatal seizures had Ohtahara syndrome. Epileptic spasms were present in five of six patients. One patient with normal magnetic resonance imaging (MRI) but focal seizures underwent epilepsy surgery and seizure frequency dropped drastically. Neuropathology showed a focal cortical dysplasia type 1a. There is a need for additional neuropathologic studies to explore whether STXBP1 mutations can lead to structural brain abnormalities.

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