Electrical status epilepticus during sleep in Mowat–Wilson syndrome

Bonanni, Paolo; Negrin, Susanna; Volzone, Anna; Zanotta, Nicoletta; Epifanio, Roberta; Zucca, Claudio; Osanni, Elisa; Petacchi, Elisa; Fabbro, Franco

doi:10.1016/j.braindev.2017.04.013

Cited by 13 publications

(13 citation statements)

References 15 publications

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“…Recently, an increasing number of pieces of literature had reported the occurrence of ESES in disorders caused by monogenic variants (Coppola et al, 2003;Kobayashi et al, 2006;Bonanni et al, 2017;Lee et al, 2017;Mathieu et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

“…A few cases and small series suggested some degree of genetic predisposition in the EEG pattern of ESES (Sánchez Fernández et al, 2012). Recently, ESES had been reported in some genetic disorders, such as KCNQ2, ZEB2, and SLC9A6 (Bonanni et al, 2017;Lee et al, 2017;Mathieu et al, 2018). Masnada et al (2017) described an ESES-like pattern in KCNA2-related developmental and epileptic encephalopathy (DEE).…”

Section: Introductionmentioning

confidence: 99%

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Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study

et al. 2021

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BackgroundRecently, the electroencephalogram pattern of electrical status epilepticus during sleep (ESES) had been reported in some genetic disorders, and most of them were noted with developmental and epileptic encephalopathy (DEE) or epileptic encephalopathy (EE). This study aimed to determine the genetic etiologies and clinical characteristics of ESES in DEE/EE.MethodsWe performed a cohort study in cases of DEE or EE with ESES. Tio-based genetic testing was performed in 74 cases and was analyzed to identify underlying variants.ResultsPathogenic or likely pathogenic variants were identified in 17/74 cases, including KCNQ2 (n = 6), KCNA2 (n = 5), GRIN2A (n = 3), SLC9A6 (n = 1), HIVEP2 (n = 1), and RARS2 (n = 1). Eleven were boys. The median age at seizure onset was 6 months. ESES occurred at the mean age of 2.0 ± 1.2 years, predominant in the Rolandic region in 14 years. Twelve of 17 cases had the first stage of different epilepsy preceding ESES: 2/12 were diagnosed as Ohtahara syndrome, 2/12 were diagnosed as infantile spasms, 3/12 were diagnosed as DEE, and 5/12 were diagnosed as EE without the epileptic syndrome.ConclusionMonogenic variants explained over 20% of DEE/EE with ESES. ESES could be an age-related feature in genetic disorders and occurred after the first stage of different epilepsy. Both age-related factors and genetic etiology were suggested to play a role in the occurrence of ESES in genetic DEE/EE.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study

et al. 2021

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“…In older children (>6 years), they observed in NREM EEG subcontinuous to almost continuous diffuse frontal predominant discharges of spike-waves, especially in the first sleep cycle, often constituting electrical status epilepticus during sleep (ESES) [ 64 ]. ESES was described also by Bonanni et al in a case series study (7 patients) outlining its possible impact on cognitive impairment; an improvement after steroid treatment was reported [ 63 ]. However, no conclusive results are available about this topic, and to date, it is very difficult to assess the exact ESES role on the severity of the patients’ intellectual disability.…”

Section: Neurological Involvement Of Mwsmentioning

confidence: 99%

“…Then, atypical absences also often occur starting from 4 years of age and are sometimes difficult to recognize. Frontal regions appear as the most involved areas in terms of epileptogenic zones [ 17 , 63 ]. An age-dependent evolution has also been highlighted regarding electroencephalography (EEG) features [ 17 ] ( Figure 2 ): earlier in life, the EEG background activity (asleep and awake) is normal and there are no paroxysmal discharges, while later in life, a slowing in background activity appears together with focal and multifocal high-voltage spikes and spike-waves prevailing in the frontal and central areas.…”

Section: Neurological Involvement Of Mwsmentioning

confidence: 99%

“…An age-dependent evolution has also been highlighted regarding electroencephalography (EEG) features [ 17 ] ( Figure 2 ): earlier in life, the EEG background activity (asleep and awake) is normal and there are no paroxysmal discharges, while later in life, a slowing in background activity appears together with focal and multifocal high-voltage spikes and spike-waves prevailing in the frontal and central areas. These epileptic discharges show relevant activation during sleep, delineating a continuous or nearly continuous spike and wave activity pattern in several patients [ 63 , 64 ]. An age-dependent EEG sleep pattern was confirmed also by Di Pisa et al [ 64 ]: all patients showed delta waves of background activity during sleep with a poverty of physiological sleep figures (spindles and K-complex), mainly in the first hours of the night.…”

Section: Neurological Involvement Of Mwsmentioning

confidence: 99%

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Neurological Phenotype of Mowat-Wilson Syndrome

Cordelli

Pisa

Fetta

et al. 2021

Genes

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Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). The ZEB2 gene is a widely expressed regulatory gene, extremely important for the proper prenatal development. MWS is characterized by a specific facial gestalt and multiple musculoskeletal, cardiac, gastrointestinal, and urogenital anomalies. The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life quality of affected individuals. This review aims to comprehensively organize and discuss the neurological and neurodevelopmental phenotype of MWS. First, we will describe the role of ZEB2 in the formation and development of the nervous system by reviewing the preclinical studies in this regard. ZEB2 regulates the neural crest cell differentiation and migration, as well as in the modulation of GABAergic transmission. This leads to different degrees of structural and functional impairment that have been explored and deepened by various authors over the years. Subsequently, the different neurological aspects of MWS (head and brain malformations, epilepsy, sleep disorders, and enteric and peripheral nervous system involvement, as well as developmental, cognitive, and behavioral features) will be faced one at a time and extensively examined from both a clinical and etiopathogenetic point of view, linking them to the ZEB2 related pathways.

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Mowat–wilson Syndrome

Mowat¹,

Wilson²

2020

Cassidy and Allanson's Management of Genetic Syndromes

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Electrical status epilepticus during sleep in Mowat–Wilson syndrome

Cited by 13 publications

References 15 publications

Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study

Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study

Neurological Phenotype of Mowat-Wilson Syndrome

Mowat–wilson Syndrome

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