A Girl with Tuberous Sclerosis Complex Presenting with Severe Epilepsy and Electrical Status Epilepticus During Sleep, and with High-Functioning Autism and Mutism

Pacheva, Iliyana; Panov, Georgi; Gillberg, Christopher; Neville, Brian

doi:10.1097/wnn.0000000000000026

Cited by 10 publications

(6 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…TSC2, the previously reported causal gene DEPDC5, as well as the de novo mutated NPRL3 gene in this study are all mTOR-signalling regulatory genes that are highly associated with malformations of cortical development [22,23]. Pacheva et al [24] reported the case of a 13-year-old girl with tuberous sclerosis complex, who presented with severe epilepsy, autism and ESES on EEG. Coincidentally, in the recently published study of Rudolf et al [18], a de novo variant of TSC2 was also found in a patient with ARE, moreover, the authors also identified ADGRV1 variants, which were found in two patients in this study.…”

Section: Discussionsupporting

confidence: 54%

Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy

Tang

Hua

et al. 2021

Epileptic Disorders

View full text Add to dashboard Cite

Objective. We aimed to identify new candidate pathogenic genes for atypical Rolandic epilepsy. Methods. We retrospectively evaluated the data from 24 Chinese patients with atypical Rolandic epilepsy who underwent whole‐exome sequencing. Data were analysed regarding the frequency of affected genes, previously reported disease‐related genes, and evaluation based on Kyoto Encyclopaedia of Genes and Genomes (KEGG). Results. We identified a frameshift mutation in the reported gene PRRT2, which is classified as pathogenic according to American College of Medical Genetics and Genomics guidelines (ACMG). We also identified a novel missense mutation in the PRRT2 gene in a family with three affected patients. Several other candidate genes were found in at least two patients, some of which were associated with other epilepsies (ADGRV1, CACNA1A, CHD2, CLCN2, HECW2, KIF1A, NPRL3, RELN and TSC2), while others were mainly associated with neuropsychiatric disease (SHANK3 and AUTS2). The KEGG analysis of 81 candidate genes associated with atypical Rolandic epilepsy identified a significant association with the GABAergic synapse. Candidate genes involved in the GABAergic synapse pathway included NSF, CACNA1A, as well as others. Significance. Our study indicates that PRRT2 mutations may be associated with atypical Rolandic epilepsy. Moreover, we identified a number of unreported candidate genes, including ADGRV1, CHD2, CACNA1A, NSF, NPRL3, KIF1A, GJB2 and HECW2, also associated with atypical Rolandic epilepsy.

show abstract

Section: Discussionsupporting

confidence: 54%

Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy

Tang

Hua

et al. 2021

Epileptic Disorders

View full text Add to dashboard Cite

show abstract

“…Interestingly, ESES, has been recently reported in one individual with WAC-related ID, however, the details of his phenotype are partially available for comparison [9]. A status epilepticus during sleep has been observed in other syndromes such as Rett syndrome, Christianson syndrome, and other autism spectrum disorders [38][39][40]. Clinical consequences of ESES in neurodevelopmental disorders, especially those characterized by regression, or in neurodegenerative disorders [38], are much more difficult to assess.…”

Section: Wac Phenotype Heterogeneitymentioning

confidence: 99%

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

Leonardi

Bellini

Aspromonte

et al. 2020

Genes

View full text Add to dashboard Cite

WAC (WW Domain Containing Adaptor With Coiled-Coil) mutations have been reported in only 20 individuals presenting a neurodevelopmental disorder characterized by intellectual disability, neonatal hypotonia, behavioral problems, and mildly dysmorphic features. Using targeted deep sequencing, we screened a cohort of 630 individuals with variable degrees of intellectual disability and identified five WAC rare variants: two variants were inherited from healthy parents; two previously reported de novo mutations, c.1661_1664del (p.Ser554*) and c.374C>A (p.Ser125*); and a novel c.381+2T>C variant causing the skipping of exon 4 of the gene, inherited from a reportedly asymptomatic father with somatic mosaicism. A phenotypic evaluation of this individual evidenced areas of cognitive and behavioral deficits. The patient carrying the novel splicing mutation had a clinical history of encephalopathy related to status epilepticus during slow sleep (ESES), recently reported in another WAC individual. This first report of a WAC somatic mosaic remarks the contribution of mosaicism in the etiology of neurodevelopmental and neuropsychiatric disorders. We summarized the clinical data of reported individuals with WAC pathogenic mutations, which together with our findings, allowed for the expansion of the phenotypic spectrum of WAC-related disorders.

show abstract

“…It has long-term poor prognosis due to the persistence of neuropsychological impairment. Despite the fact that the ESESS/CSWSS pattern can be seen in ESESS/CSWSS/epilepsy-aphasia spectrum, it can also concur with other syndromes such as Rett syndrome, Costeff syndrome, Christianson syndrome, Tuberous sclerosis complex, Cohen syndrome and autism spectrum disorders [ 10 – 15 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review

et al. 2018

View full text Add to dashboard Cite

BackgroundElectrical status epilepticus during slow-wave sleep (ESESS) which is also known as continuous spike-wave of slow sleep (CSWSS) is type of electroencephalographic (EEG) pattern which is seen in ESESS/CSWSS/epilepsy aphasia spectrum. This EEG pattern can occur alone or with other syndromes. Its etiology is not clear, however, brain malformations, immune disorders, and genetic etiologies are suspected to contribute. We aimed to perform a systematic review of all genetic etiologies which have been reported to associate with ESESS/CSWSS/epilepsy-aphasia spectrum. We further aimed to identify the common underlying pathway which can explain it. To our knowledge, there is no available systematic review of genetic etiologies of ESESS/CSWSS/epilepsy-aphasia spectrum. MEDLINE, EMBASE, PubMed and Cochrane review database were searched, using terms specific to electrical status epilepticus during sleep or continuous spike–wave discharges during slow sleep or epilepsy-aphasia spectrum and of studies of genetic etiologies. These included monogenic mutations and copy number variations (CNVs). For each suspected dosage-sensitive gene, further studies were performed through OMIM and PubMed database.ResultsTwenty-six studies out of the 136 identified studies satisfied our inclusion criteria. I51 cases were identified among those 26 studies. 16 studies reported 11 monogenic mutations: SCN2A (N = 6), NHE6/SLC9A6 (N = 1), DRPLA/ ATN1 (N = 1), Neuroserpin/SRPX2 (N = 1), OPA3 (N = 1), KCNQ2 (N = 2), KCNA2 (N = 5), GRIN2A (N = 34), CNKSR2 (N = 2), SLC6A1 (N = 2) and KCNB1 (N = 5). 10 studies reported 89 CNVs including 9 recurrent ones: Xp22.12 deletion encompassing CNKSR2 (N = 6), 16p13 deletion encompassing GRIN2A (N = 4), 15q11.2–13.1 duplication (N = 15), 3q29 duplication (N = 11), 11p13 duplication (N = 2), 10q21.3 deletion (N = 2), 3q25 deletion (N = 2), 8p23.3 deletion (N = 2) and 9p24.2 (N = 2). 68 of the reported genetic etiologies including monogenic mutations and CNVs were detected in patients with ESESS/CSWSS/epilepsy aphasia spectrum solely. The most common underlying pathway was channelopathy (N = 56).ConclusionsOur review suggests that genetic etiologies have a role to play in the occurrence of ESESS/CSWSS/epilepsy-aphasia spectrum. The common underlying pathway is channelopathy. Therefore we propose more genetic studies to be done for more discoveries which can pave a way for proper drug identification. We also suggest development of common cut-off value for spike-wave index to ensure common language among clinicians and researchers.Electronic supplementary materialThe online version of this article (10.1186/s12863-018-0628-5) contains supplementary material, which is available to authorized users.

show abstract

A Girl with Tuberous Sclerosis Complex Presenting with Severe Epilepsy and Electrical Status Epilepticus During Sleep, and with High-Functioning Autism and Mutism

Cited by 10 publications

References 19 publications

Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy

Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review

Contact Info

Product

Resources

About