Electrical status epilepticus in sleep (ESES)/continuous spikes and waves during slow sleep (CSWS) syndrome in children: An electroclinical evaluation according to the EEG patterns

Gençpınar, Pınar; Dündar, Nihal Olgaç; Tekgül, Hasan

doi:10.1016/j.yebeh.2016.05.014

Cited by 41 publications

(46 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our data indicate that IIS events appear to worsen during sleep in both humans and mice with SYNGAP1/Syngap1 haploinsufficiency. Sleep-linked worsening of IIS is a hallmark of epilepsy syndromes with significant cognitive impairment [34]. We found that SynGAP reexpression in adult mutant mice eliminated these pathological events, which are also detected by EEG electrodes, during both wakefulness and sleep.…”

Section: Discussionmentioning

confidence: 62%

“…We were therefore interested in determining if EEG-recorded IIS events in Syngap1 mice had parallels in humans expressing pathogenic SYNGAP1 variants. While IIS events are commonly observed in both humans and animal models expressing genetic risk variants linked to epilepsy, worsening of these events during sleep is uncommon and is a symptom of a distinct cluster of epilepsy syndromes, such as electrical status epilepticus in sleep (ESES)/continuous spikes and waves during slow sleep (CSWS) [34]. Therefore, because sleep-dependent worsening of IIS events was observed in Syngap1 mice, we searched for evidence of sleep-dependent worsening of paroxysmal spiking events in MRD5 patients.…”

Section: Mrd5 Patients and Syngap1mentioning

confidence: 99%

See 1 more Smart Citation

Re-expression of SynGAP Protein in Adulthood Improves Translatable Measures of Brain Function and Behavior in a Model of Neurodevelopmental Disorders

Rojas

Hwaun

et al. 2018

Preprint

View full text Add to dashboard Cite

Background: Neurodevelopmental disorder (NDD) risk genes have pleiotropic biological functions, such as control over both developmental and non-developmental processes that influence disease-related phenotypes. Currently, it remains unclear how developmental versus non-developmental processes influence the duration and/or effectiveness of permissive treatment windows for NDDs. SYNGAP1 haploinsufficiency causes an NDD defined by autistic traits, cognitive impairment, and epilepsy. Syngap1 heterozygosity in mice disrupts a developmental critical period, and, consistent with this, certain behavioral abnormalities are resistant to gene therapy initiated in adulthood. However, the Syngap1 endophenotype is extensive and this protein has diverse cell biological functions. Therefore, SynGAP pleiotropy may influence the permissive treatment window for previously untested disease-relevant phenotypes.Methods: A whole-body gene restoration technique was used to determine how restoration of SynGAP protein in adult heterozygous mice impacted previously untested phenotypes, such as memory, seizure susceptibility, systems-level cortical hyperexcitability, and hippocampal oscillations linked to mnemonic processes.Results: Adult restoration of SynGAP protein in haploinsufficient mice reversed long-term contextual memory deficits and behavioral measures of seizure susceptibility. Moreover, SynGAP re-expression in adult mice eliminated brain state-dependent, patient-linked paroxysmal interictal spiking and increased the amplitude of hippocampal theta oscillations.Conclusions: SynGAP protein in the mature brain dynamically regulates neural circuit function and influences disease-relevant phenotypes. The impact of these findings is that treatments targeting certain debilitating aspects of SYNGAP1-related disorders may be effective throughout life. Moreover, the efficacy of experimental treatments for SYNGAP1 patients may be quantifiable through changes in species-conserved, state-dependent pathological electroencephalogram signals.

show abstract

Section: Discussionmentioning

confidence: 62%

Section: Mrd5 Patients and Syngap1mentioning

confidence: 99%

Re-expression of SynGAP Protein in Adulthood Improves Translatable Measures of Brain Function and Behavior in a Model of Neurodevelopmental Disorders

Rojas

Hwaun

et al. 2018

Preprint

View full text Add to dashboard Cite

show abstract

“…Higher IQ/DQ and shorter CSWS duration were significantly related to positive treatment response. Recently, the electroclinical spectrum and treatment efficacy was reported in a large cohort of 44 Turkish patients with ESES (Gencpinar et al, 2016). Patients treated with a minimum of two AEDs did not differ from patients treated with AEDs and ACTH with respect to S79 Current treatment options for Encephalopathy related to Status Epilepticus during slow Sleep seizure outcome, SWI and cognitive outcome.…”

Section: Corticosteroidsmentioning

confidence: 99%

Current treatment options for Encephalopathy related to Status Epilepticus during slow Sleep

Jansen¹,

Nikanorova

Peltola

2019

Epileptic Disorders

View full text Add to dashboard Cite

The major goal of therapy in patients with Encephalopathy related to Status Epilepticus during slow Sleep (ESES) is to prevent or reduce associated cognitive deficits. Whether or not the EEG pattern of ESES should be completely suppressed to improve cognition is unknown. In clinical practice, there are two major challenges: to establish the optimal treatment strategy in patients with ESES, and to identify the patients who will benefit most from therapy, including atypical cases. Here, we provide a comprehensive overview of the current literature on treatment efficacy in patients with ESES.

show abstract

“…Certain conditions like Electrical Status Epilepticus in Sleep (ESES), Landau Kleffner Syndrome (LKS), certain autoimmune and paraneoplastic causes can mimic autism spectrum disorder [26]. Both LKS and CSWS (continuous spike and wave during slow wave sleep) can have ESES when EEG is done in these children.…”

Section: Autism Mimicsmentioning

confidence: 99%

“…Both LKS and CSWS (continuous spike and wave during slow wave sleep) can have ESES when EEG is done in these children. So whenever the hyperactivity or aggression is inappropriately high as compared to the severity of core symptoms, a sleep and awake EEG should be done [26].…”

Section: Autism Mimicsmentioning

confidence: 99%

Current consensus on clinical features, pathogenesis, diagnosis and management of autism spectrum disorder in children: A brief review

Panda

2019

Int J Pediatr Res

View full text Add to dashboard Cite

Autism spectrum disorder (ASD) usually presents in early developmental period, in children less than five years usually with poor social relations, verbal and nonverbal communications and stereotypic and repetitive behavior. The prevalence of ASD is increasing rapidly; especially in urban community of developed as well as developing nations. Combined interaction of genetic and environmental factors has been proposed as the possible neuropathogenetic mechanism underlying ASD. Children with ASD have specific abnormalities in functional connectivity of brain and altered fecal microbiota. Children with Fragile X syndrome, Rett syndrome and Tuberous sclerosis often have autistic features.Interviewing the caregiver and observation of the child is the only definitive way to confirm the diagnosis of ASD. Recently DSM V criteria have combined under a single umbrella all the autistic disorders including Asperger syndrome and pervasive developmental disorder-not otherwise satisfied. Apart from DSM V criteria, Autism Diagnostic Observation Schedule (ADOS) and Childhood Autism Rating Scale (CARS) are also useful in diagnosis and evaluation of children with ASD. Autistic children are more likely to have hyperactivity, inattention, sleep abnormalities and epilepsy, as compared to general population. Applied behavioral analysis, sensory integration therapy and structured teaching are used in the management of autism spectrum disorder, along with atypical antipsychotics like Risperidone and Aripiprazole. Various complementary and alternative treatments like music therapy, oral probiotics and gluten free, casein free diet are currently under evaluation in various clinical studies.

show abstract

Electrical status epilepticus in sleep (ESES)/continuous spikes and waves during slow sleep (CSWS) syndrome in children: An electroclinical evaluation according to the EEG patterns

Cited by 41 publications

References 22 publications

Re-expression of SynGAP Protein in Adulthood Improves Translatable Measures of Brain Function and Behavior in a Model of Neurodevelopmental Disorders

Re-expression of SynGAP Protein in Adulthood Improves Translatable Measures of Brain Function and Behavior in a Model of Neurodevelopmental Disorders

Current treatment options for Encephalopathy related to Status Epilepticus during slow Sleep

Current consensus on clinical features, pathogenesis, diagnosis and management of autism spectrum disorder in children: A brief review

Contact Info

Product

Resources

About