Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

Mathieu, M.; Bellescize, Julitta de; Till, Marianne; Flurin, V.; Labalme, Audrey; Chatron, Nicolas; Sanlaville, Damien; Chémaly, Nicole; Portes, Vincent Des; Ostrowsky, Karine; Arzimanoglou, Alexis; Lesca, Gaëtan

doi:10.1016/j.ejpn.2018.07.004

Cited by 14 publications

(20 citation statements)

References 40 publications

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“…Interictal EEG in both our patients showed frequent generalized slow spike–wave complexes that were very similar to those reported by Pescosolido et al [3], Zanni et al [5], and Mathieu et al [7]. Although the precise details of the EEG including spike–wave complexes (whether “slow” spike–wave or not) cannot be determined from previous reports, we note generalized spike–wave complexes are a characteristic feature of interictal EEG in CS.…”

Section: Discussionsupporting

confidence: 90%

“…Our first patient had drug-resistant seizures and developed severe intellectual disability; however, the seizures decreased by age 14 years, which is similar to the disease course reported by Mathieu et al [7]. Therefore, it appears that seizures may decrease spontaneously in some patients during adolescence.…”

Section: Discussionsupporting

confidence: 86%

“…Epilepsy in CS is often drug-resistant and is a leading concern for family members [3]. While there have been several reports of electrical status epilepticus during slow-wave sleep (ESES) [[5], [6], [7]], few reports provide detailed description regarding the long-term course of epilepsy in CS.…”

Section: Introductionmentioning

confidence: 99%

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Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature

Ikeda

Yamamoto

Ichikawa

et al. 2020

Epilepsy & Behavior Reports

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Christianson syndrome (CS) is an X-linked intellectual disorder caused by mutations in the SLC9A6 gene. Clinical features of CS include an inability to speak, truncal ataxia, postnatal microcephaly, hyperkinesis, and epilepsy. Almost all patients with CS develop drug-resistant epilepsy—its most serious complication. We report two cases of CS with drug-resistant epilpesy associated with the Lennox–Gastaut syndrome (LGS). One patient experienced generalized tonic seizures since 9 months of age with cognitive regression, which evolved to include atonic seizures at the age of 7 years. Electroencephalography (EEG) showed generalized slow spike–wave complexes and generalized paroxysmal fast activity. Seizures remained drug-resistant despite multiple anti-seizure drugs. The second patient experienced generalized tonic seizures since the age of 17 months and arrested development. EEG showed generalized slow spike–wave complexes, with frequent atonic seizures since the age of 6 years. Electrical status epilepticus during slow-wave sleep (ESES) developed at the age of 7 years. Our cases illustrate that CS may cause LGS in addition to other developmental and epileptic encephalopathies of the neonatal and infantile period. We suggest that generalized tonic or tonic–clonic seizures and generalized slow spike–wave complexes in interictal EEG be included as potential electroclinical features of epilepsy in CS.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 86%

See 1 more Smart Citation

Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature

Ikeda

Yamamoto

Ichikawa

et al. 2020

Epilepsy & Behavior Reports

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“…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%

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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“…Furthermore, several genetic and genomic defects of the CNKSR2 gene, encoding an adaptor protein of the postsynaptic density, have been identified in patients with clinical features reminiscent of the epilepsyaphasia spectrum (Lesca et al, 2012;Vaags et al, 2014;Damiano et al, 2017). Last but not least, recent publications also suggest that ESES may be a frequent and underestimated feature in patients with Christianson syndrome, a severe neurodevelopmental disorder due to mutations in SLC9A6, encoding the endosomal solute carrier (Na K/H) exchanger 6 (NHE6) (Zanni et al, 2014;Mathieu et al, 2018).…”

Section: Other Rare Monogenic Causes Of Esesmentioning

confidence: 99%

Update on the genetics of the epilepsy‐aphasia spectrum and role of GRIN2A mutations

Lesca

Møller

Rudolf

et al. 2019

Epileptic Disorders

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Formerly idiopathic, focal epilepsies (IFE) are self‐limiting, “age‐related” diseases that mainly occur during critical developmental periods. Childhood epilepsy with centrotemporal spikes, or Rolandic epilepsy (RE), is the most frequent form of IFE. Together with the Landau‐Kleffner syndrome and the epileptic Encephalopathy related to Status Epilepticus during slow Sleep syndrome (ESES), RE is part of a single and continuous spectrum of childhood epilepsies and epileptic encephalopathies with acquired cognitive, behavioral and speech and/or language impairment, known as the epilepsy‐aphasia spectrum (EAS). The pathophysiology has long been attributed to an elusive and complex interplay between brain development and maturation processes on the one hand, and susceptibility genes on the other hand. Studies based on the variable combination of molecular cytogenetics, Sanger and next‐generation sequencing tools, and functional assays have led to the identification and validation of genetic mutations in the GRIN2A gene that can directly cause various types of EAS disorders. The recent identification of GRIN2A defects in EAS represents a first and major break‐through in our understanding of the underlying pathophysiological mechanisms. In this review, we describe the current knowledge on the genetic architecture of IFE.

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Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

Cited by 14 publications

References 40 publications

Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature

Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature

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

Update on the genetics of the epilepsy‐aphasia spectrum and role of GRIN2A mutations

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