Las alteraciones neuropsicológicas son frecuentes en la epilepsia rolándica y sus evoluciones atípicas

Pesántez-Ríos, Gabriela; Martínez-Bermejo, A; Pesantez-Cuesta, G

doi:10.33588/rn.6303.2016004

RevNeurol

2016

DOI: 10.33588/rn.6303.2016004

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Las alteraciones neuropsicológicas son frecuentes en la epilepsia rolándica y sus evoluciones atípicas

Gabriela Pesántez-Ríos¹,

A Martínez-Bermejo

G Pesantez-Cuesta³

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Cited by 4 publications

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“…Atypical BECT, Landau‐Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike‐and‐waves during sleep syndrome (CSWS) are classified as clinical syndromes related to electrical status epilepticus in slow sleep (ESES) [2], and are also referred to as atypical Rolandic epilepsy (ARE) [3]. Unlike typical RE, ARE patients may experience intellectual impairment, behavioural disorders, and neurocognitive regression, even after adolescence [4]. RE and ARE are located at the opposite ends of a continuous spectrum of disorders, but are believed to share a common genetic basis [5].…”

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

Tang

Hua

et al. 2021

Epileptic Disorders

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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.

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confidence: 99%

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

Tang

Hua

et al. 2021

Epileptic Disorders

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Executive functioning in children with self-limited epilepsy with centrotemporal spikes: a systematic review and meta-analysis

Ramos

Coelho

Ribeiro

et al. 2021

Child Neuropsychology

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The Clinical Spectrum of Benign Epilepsy with Centro-Temporal Spikes: a Challenge in Categorization and Predictability

Lee¹,

Hwang²,

Kwon³

2017

J Epilepsy Res

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Benign epilepsy with centro-temporal spikes (BECTS) is the most common type of focal epilepsy in children; it is age-dependent and presumably genetic. Traditionally, children with BECTS have a very good prognosis, even without medical treatment, and are thought to show no neurological symptoms or cognitive deficits. However, many previous studies have shown that BECTS can present with various clinical and electroencephalographic characteristics that are commonly associated with neuropsychological deficits, including linguistic, cognitive, and behavioral impairment. The degree of the neuropsychological deficits appears to depend on the sleep cycle and the localization of epileptiform discharges. Furthermore, based on neurobiological studies, a complex interplay between the processes of brain maturation and the involvement of genes that confer susceptibility may contribute to a variety of different childhood epileptic syndromes with various neuropsychological deficits. Thus, BECTS, atypical benign focal epilepsy during childhood, status epilepticus of BECTS, Landau-Kleffner syndrome, and epileptic encephalopathy with continuous spike-and-wave during sleep are all considered different entities, but are part of a single spectrum of disorders. In clinical practice, we have to consider BECTS as benign only when there are no or only mild neuropsychological deficits before medical treatment.

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Las alteraciones neuropsicológicas son frecuentes en la epilepsia rolándica y sus evoluciones atípicas

Cited by 4 publications

References 0 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

Executive functioning in children with self-limited epilepsy with centrotemporal spikes: a systematic review and meta-analysis

The Clinical Spectrum of Benign Epilepsy with Centro-Temporal Spikes: a Challenge in Categorization and Predictability

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