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Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy Volume 15, numéro 1, March 2013



Figure 1 Neonatal and post-neonatal EEG. At 5 days: (A) highly discontinuous pattern during wakefulness; (B) moderately asynchronous SB-EEG pattern during sleep.



Figure 2 Neonatal and post-neonatal EEG. At 2 months: (A) hypermotor seizure characterised by eyes opening, stiffening, and slight clonic jerks of the bilateral upper limbs; (B) isolated subtle spasm 14 minutes later.



Figure 3 (A) Sagittal T1-weighted and (B) coronal T2-weighted MR images from a two-month postnatal study showing global thinning of the corpus callosum (arrows), more evident in the anterior part. No focal parenchymal lesions were detectable. Myelination was normal for age.



Figure 4 Representation of 9q33.3q34.1 genomic region. (A) All 9q33.3q34.1 deletions published so far, including that of our patient. (B) STXBP1 intragenic deletions. The deletions corresponding to each case are represented by a coloured box.