Neurodevelopmental origins of self‐limiting rolandic epilepsy: Systematic review of MR imaging studies

Smith, Stuart; Smith, Anna; Richardson, Mark P.; Pal, Deb K.

doi:10.1002/epi4.12468

Cited by 8 publications

(5 citation statements)

References 78 publications

(157 reference statements)

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“…Furthermore, our disease enrichment showed that genes in “epilepsy”, “Intellectual Disability”, “Schizophrenia”, “developmental delay” had the strong overlap with Rolandic epilepsy. Together with evidence that Rolandic epilepsy presents comorbidities of attention-deficit hyperactivity disorder and autism 4 , 5 , these findings supported that Rolandic epilepsy share a common mechanism with common neurodevelopmental disorders 3 , 4 .…”

Section: Discussionsupporting

confidence: 53%

“…Moreover, it is a gene-associated disease in etiology, sharing common genes, and having high comorbidities with attention-deficit/hyperactivity disorder and autism 3 , 4 . Thus, RE has been conceptualized as a neurodevelopmental disorder 5 . In clinic, aside from nocturnal convulsive seizures, cognitive deficits in attention, control, and language is the major complaint of children with RE 6 .…”

Section: Introductionmentioning

confidence: 99%

“…In clinic, aside from nocturnal convulsive seizures, cognitive deficits in attention, control, and language is the major complaint of children with RE 6 . Such cognitive deficits have been suggested to result either from direct impairments of epileptic incidences 7 , or alternatively, was also proposed to be a consequence of delayed brain development 5 , 8 . Therefore, an overarching system-level developmental imbalance may relate to the co-occurrence of mild seizures and deficits in higher-order cognitive processing.…”

Section: Introductionmentioning

confidence: 99%

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Atypical functional connectivity hierarchy in Rolandic epilepsy

Zhang

et al. 2023

Commun Biol

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Functional connectivity hierarchy is an important principle in the process of brain functional organization and an important feature reflecting brain development. However, atypical brain network hierarchy organization in Rolandic epilepsy have not been systematically investigated. We examined connectivity alteration with age and its relation to epileptic incidence, cognition, or underlying genetic factors in 162 cases of Rolandic epilepsy and 117 typically developing children, by measuring fMRI multi-axis functional connectivity gradients. Rolandic epilepsy is characterized by contracting and slowing expansion of the functional connectivity gradients, highlighting the atypical age-related change of the connectivity hierarchy in segregation properties. The gradient alterations are relevant to seizure incidence, cognition, and connectivity deficit, and development-associated genetic basis. Collectively, our approach provides converging evidence for atypical connectivity hierarchy as a system-level substrate of Rolandic epilepsy, suggesting this is a disorder of information processing across multiple functional domains, and established a framework for large-scale brain hierarchical research.

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Section: Discussionsupporting

confidence: 53%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Atypical functional connectivity hierarchy in Rolandic epilepsy

Zhang

et al. 2023

Commun Biol

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“… 35 In the context of EAS, individuals with Rolandic epilepsy also show a thicker cortex in inferior frontal and supramarginal regions. 36 It should be noted, however, that MRI studies examining Rolandic epilepsy report inconsistent findings, with both increases and decreases 37 found depending on age (review by Smith et al 38 ). Altogether, the perisylvian anomalies reported here in individuals with pathogenic GRIN2A variants are consistent with their speech-language disorder and align with findings from other genetic conditions where phenotypes overlap.…”

Section: Discussionmentioning

confidence: 99%

Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants

Thompson-Lake,

Liegeois,

Braden

et al. 2024

Neurol Genet

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Background and Objectives Pathogenic variants in GRIN2A are associated with a spectrum of epilepsy-aphasia syndromes (EASs). Seizures as well as speech and language disorders occur frequently but vary widely in severity, both between individuals and across the life span. The link between this phenotypic spectrum and brain characteristics is unknown. Specifically, altered brain networks at the root of speech and language deficits remain to be identified. Patients with pathogenic variants in GRIN2A offer an opportunity to interrogate the impact of glutamate receptor dysfunction on brain development. Methods We characterized brain anomalies in individuals with pathogenic GRIN2A variants and EASs, hypothesizing alterations in perisylvian speech-language regions and the striatum. We compared structural MRI data from 10 individuals (3 children and 7 adults, 3 female) with pathogenic GRIN2A variants with data from age-matched controls (N = 51 and N = 203 in a secondary analysis). We examined cortical thickness and volume in 4 a priori hypothesized speech and language regions (inferior frontal, precentral, supramarginal, and superior temporal) and across the whole brain. Subcortical structures (hippocampus, basal ganglia, thalamus) and the corpus callosum were also compared. Results Individuals with pathogenic GRIN2A variants showed increased thickness and volume in the posterior part of Broca's area (inferior frontal gyrus, pars opercularis). For thickness, the effects were bilateral but more pronounced in the left (large effect size, η 2 = 0.37) than the right (η 2 = 0.12) hemisphere. Both volume and thickness were also higher in the bilateral superior temporal region while the supramarginal region showed increased thickness only. Whole-brain analyses confirmed left-sided thickness increases in Broca's area, with additional increases in the occipital and superior frontal cortices bilaterally. Hippocampal volume was reduced in the left hemisphere. There were no age-dependent effects or corpus callosum group differences. Discussion Anomalies in perisylvian regions, with largest differences in Broca's area, suggest an altered development of classical speech-language networks in GRIN2A -related EAS. Left hippocampal reduction suggests a role for this structure in early speech and language development and is consistent with GRIN2A gene expression in that region. Overall, elucidating the neural correlates of EAS provides insights into the impact of GRIN2A dysfunction, opening avenues for targeted intervention in developmental syndromes with compromised speech-language development.

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“…Limited follow-up studies indicated that children with SeLECTS generally exhibit positive cognitive levels and social outcomes. [11][12][13] Conversely, few reports proved persistent multiple cognitive impairment, 14,15 especially in language deficits. 6,16 However, fewer studies have focused on memory cognition.…”

Section: Introductionmentioning

confidence: 99%

Recognition memory deficits detected through eye‐tracking in well‐controlled children with self‐limited epilepsy with centrotemporal spikes

Fu,

Zhang,

Cao

et al. 2024

Epilepsia

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ObjectiveChildren with self‐limited epilepsy characterized by centrotemporal spikes (SeLECTS) exhibit cognitive deficits in memory during the active phase, but there is currently a lack of studies and techniques to assess their memory development after well‐controlled seizures. In this study, we employed eye‐tracking techniques to investigate visual memory and its association with clinical factors and global intellectual ability, aiming to identify potential risk factors by examining encoding and recognition processes.MethodsA total of 26 recruited patients diagnosed with SeLECTS who had been seizure‐free for at least 2 years, along with 24 control subjects, underwent Wechsler cognitive assessment and an eye‐movement‐based memory task while video‐electroencephalographic (EEG) data were recorded. Fixation and pupil data related to eye movements were utilized to detect distinct memory processes and subsequently to compare the cognitive performance of patients exhibiting different regression patterns on EEG.ResultsThe findings revealed persistent impairments in visual memory among children with SeLECTS after being well controlled, primarily observed in the recognition stage rather than the encoding phase. Furthermore, the age at onset, frequency of seizures, and interictal epileptiform discharges exhibited significant correlations with eye movement data.SignificanceChildren with SeLECTS exhibit persistent recognition memory impairment after being well controlled for the disease. Controlling the frequency of seizures and reducing prolonged epileptiform activity may improve memory cognitive development. The application of the eye‐tracking technique may provide novel insights into exploring memory cognition as well as underlying mechanisms associated with pediatric epilepsy.

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Neurodevelopmental origins of self‐limiting rolandic epilepsy: Systematic review of MR imaging studies

Cited by 8 publications

References 78 publications

Atypical functional connectivity hierarchy in Rolandic epilepsy

Atypical functional connectivity hierarchy in Rolandic epilepsy

Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants

Recognition memory deficits detected through eye‐tracking in well‐controlled children with self‐limited epilepsy with centrotemporal spikes

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