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

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.

Jaar van publicatie:2013

Trefwoorden:Epileptic encephalopathy, Genetics, West syndrome, Ohtahara syndrome