ORIGINAL RESEARCH ARTICLEPurpose: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS. Methods:In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations. Conclusion:Knowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.

SUMMARYWe report the history of a 14-year-old girl with atypical childhood occipital epilepsy "Gastaut type" whose first generalized tonic-clonic seizure was preceded by migraine without aura and followed by a status migrainosus. This status lasted for 3 days despite standard analgesic therapy. An EEG recording revealed an occipital status epilepticus during her migraine complaints. Seven minutes after intravenous administration of 10 mg diazepam under continuous EEG recording, a suppression of the epileptiform discharges over the right occipital was seen, while the headache subsided 3 min later. After precise questioning about the circumstances that possibly could have led to these events, it appeared that she had played for hours with a play station on the new color TV

The association of epilepsy and autism is recognized, and it has been reported at a percentage that varies between 8 and 42%, depending on age and diagnostic criteria. One third of autistic children undergo a regression of language and behavior between 2 and 3 years, and epileptiform abnormalities and epilepsy can be concomitant in an undetermined percentage of them. The aim of this study was to investigate the prevalence of epilepsy and paroxysmal abnormalities in a group of children with autism and to determine the percentage of regression course in this group. Forty-six patients with autism (mean age 7.8 +/- 2.7 years; 34 boys and 12 girls) were consecutively examined, and clinical evaluation, assessment, and electroencephalographic (EEG) recordings were performed in all of them. Thirty-five percent showed paroxysmal abnormalities and epilepsy, 22% had only paroxysmal abnormalities without seizures, and 13% of the children suffered from epilepsy. Sixty-five percent had a normal EEG. No difference in regression rate was observed between patients with paroxysmal abnormalities and epilepsy and those with a normal EEG and without seizures. In the study group, the prevalence of epilepsy was in the low range of individuals with autism, and different types of epilepsy were observed. Autism with regression was not influenced by paroxysmal abnormalities and epilepsy.

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AED Antiepileptic drug CAP Cyclic alternating pattern ESES Electrical status epilepticus during sleep IEDInterictal epileptic discharge NREM Non-rapid eye movement REM Rapid eye movement SWS Slow-wave sleep AIM The purpose of this review was to examine the possible pathophysiological links between epilepsy, cognition, sleep macro-and microstructure, and sleep disorders to highlight the contributions and interactions of sleep and epilepsy on cognitive functioning in children with epilepsy.METHOD PubMed was used as the medical database source. No language restriction was placed on the literature searches, and citations of relevant studies in the paediatric age range (0-18y) were checked. Studies including a mixed population but with a high percentage of children were also considered. RESULTSThe searches identified 223 studies. One reviewer scanned these to eliminate obviously irrelevant studies. Three reviewers scanned the remaining 128 studies and their relevant citations. The review showed that several factors could account for the learning impairment in children with epilepsy: aetiology, electroencephalographic (EEG) discharges, and persistence and circadian distribution of seizures, etc. EEG discharges may affect cognition and sleep, even in the absence of clinical or subclinical seizures. The sleep deprivation and ⁄ or sleep disruption affect the neurophysiological and neurochemical mechanisms important for the memory-learning process, but also influence the expression of EEG discharges and seizures. Learning and memory consolidation can take place over extended periods, and sleep has been demonstrated to play a fundamental role in these processes through neuroplastic remodelling of neural networks. Epilepsy and EEG paroxysms may affect sleep structure, interfering with these physiological functions.INTERPRETATION Improvement in the long-term cognitive-behavioural prognosis of children with epilepsy requires both good sleep quality and good seizure control. The antiepileptic drug of choice should be the one that interferes least with sleep structure and has the best effect on sleep architecture -thus normalizing sleep instability, especially during non-rapid eye movement sleep.