Epilepsy With Auditory Features: From Etiology to Treatment

Furia, Alessandro; Bisulli, Francesca; Muccioli, Lorenzo; Ferri, Lorenzo; Mostacci, Barbara; Mazzoni, Stefania; Menghi, Veronica; Minardi, Raffaella; Tinuper, Paolo; Bisulli, Francesca

doi:10.3389/fneur.2021.807939

Cited by 4 publications

(2 citation statements)

References 38 publications

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“…The primary auditory cortex in humans is located in Heschl's gyrus, with simple auditory auras closely related to it (35), while more complex auditory hallucinations may be related to the superior temporal gyrus (36,37). Ictal signs in both Groups 2A, B were predominantly elementary motor signs.…”

Section: The Anatomic-electroclinical Correlation Of Groupmentioning

confidence: 97%

Correlation Between Ictal Signs and Anatomical Subgroups in Temporal Lobe Seizures: A Stereoelectroencephalography Study

Zhang

Wang

et al. 2022

Front. Neurol.

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ObjectiveIctal semiology is a fundamental part of the presurgical evaluation of patients with temporal lobe epilepsy. We aimed to identify different anatomical and semiologic subgroups in temporal lobe seizures, and investigate the correlation between them.MethodsWe enrolled 93 patients for whom stereoelectroencephalography exploration indicated that the seizure-onset zone was within the temporal lobe. Ictal signs and concomitant stereoelectroencephalography changes were carefully reviewed and quantified, and then cluster analysis and the Kendall correlation test were used to associate ictal signs with the temporal structures of patients.ResultsClustering analysis identified two main groups of temporal structures. Group 1 consisted of the medial temporal lobe structures and the temporal pole, which were divided into two subgroups. Group 1A included the hippocampal head, hippocampal body, and amygdala, and this subgroup correlated significantly with oroalimentary automatisms, feeling of fear, and epigastric auras. Group 1B included the hippocampal tail, temporal pole, and parahippocampal gyrus, and this subgroup correlated significantly with manual and oroalimentary automatisms. Group 2 consisted of the cortical structures of the temporal lobe and was also divided into two subgroups. Group 2A included the superior and middle temporal gyrus, correlated significantly with bilateral rictus/facial contraction, generalized tonic–clonic seizure, and manual automatisms. Group 2B included Heschl's gyrus, the inferior temporal gyrus, and the fusiform gyrus, and this subgroup correlated significantly with auditory auras, focal hypokinetics, unilateral upper and lower limbs tonic posture/clonic signs, head/eye deviation, unilateral versive signs, and generalized tonic–clonic seizure.SignificanceThe temporal structures can be categorized according to the level at which each structure participates in seizures, and different anatomical subgroups can be correlated with different ictal signs. Identifying specific semiologic features can help us localize the epileptogenic zone and thus develop stereoelectroencephalography electrode implantation and surgical resection protocols for patients with temporal lobe epilepsy.

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Section: The Anatomic-electroclinical Correlation Of Groupmentioning

confidence: 97%

Correlation Between Ictal Signs and Anatomical Subgroups in Temporal Lobe Seizures: A Stereoelectroencephalography Study

Zhang

Wang

et al. 2022

Front. Neurol.

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“…Epilepsy is a chronic brain disorder that involves synchronized neuronal bursting (Dominguez et al, 2005). Temporal lobe epilepsy (TLE), a type of epilepsy that accounts for approximately 60% of all epilepsies seen in adults, has been reported to be associated with auditory symptoms in some patients (Furia et al, 2022; Téllez‐Zenteno & Hernández‐Ronquillo, 2012). Auditory impairments include tinnitus, auditory hallucinations, and impaired sound discrimination (Han et al, 2011; Hauf et al, 2013; Meneguello et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Microglia induce auditory dysfunction after status epilepticus in mice

Araki,

Hiragi,

Kuga

et al. 2023

Glia

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Auditory dysfunction and increased neuronal activity in the auditory pathways have been reported in patients with temporal lobe epilepsy, but the cellular mechanisms involved are unknown. Here, we report that microglia play a role in the disinhibition of auditory pathways after status epilepticus in mice. We found that neuronal activity in the auditory pathways, including the primary auditory cortex and the medial geniculate body (MGB), was increased and auditory discrimination was impaired after status epilepticus. We further demonstrated that microglia reduced inhibitory synapses on MGB relay neurons over an 8‐week period after status epilepticus, resulting in auditory pathway hyperactivity. In addition, we found that local removal of microglia from the MGB attenuated the increase in c‐Fos+ relay neurons and improved auditory discrimination. These findings reveal that thalamic microglia are involved in auditory dysfunction in epilepsy.

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Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies

Talarico,

Procopio,

Gagliardi

et al. 2024

IJMS

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Pathogenic KCNQ2 variants are associated with neonatal epilepsies, ranging from self-limited neonatal epilepsy to KCNQ2–developmental and epileptic encephalopathy (DEE). In this study, next-generation sequencing was performed, applying a panel of 142 epilepsy genes on three unrelated individuals and affected family members, showing a wide variability in the epileptic spectrum. The genetic analysis revealed two likely pathogenic missense variants (c.1378G>A and c.2251T>G) and the already-reported pathogenic splice site (c.1631+1G>A) in KCNQ2 (HGNC:6296). The phenotypes observed in the affected members of family 1, which shared the c.2251T>G variant, were epilepsy with auditory features (EAFs), focal epilepsy, and generalized epilepsy, and none of them suffered from neonatal seizures. The gene panel contained further genes related to EAFs (LGI1, RELN, SCN1A, and DEPDC5), which were tested with negative results. The phenotypes observed in family 2 members, sharing the splice site variant, were neonatal seizures and focal epilepsy in childhood. The last unrelated proband, harboring the de novo missense c.1378G>A, presented a clinical phenotype consistent with DEE. In conclusion, we identified two unreported KCNQ2 variants, and report a proband with EAFs and individuals without typical KCNQ2 neonatal seizures. Our study underscores the extreme variability in the phenotypic spectrum of KCNQ2-related epilepsies and unveils the prospect of its inclusion in screening panels for EAFs.

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Epilepsy With Auditory Features: From Etiology to Treatment

Cited by 4 publications

References 38 publications

Correlation Between Ictal Signs and Anatomical Subgroups in Temporal Lobe Seizures: A Stereoelectroencephalography Study

Correlation Between Ictal Signs and Anatomical Subgroups in Temporal Lobe Seizures: A Stereoelectroencephalography Study

Microglia induce auditory dysfunction after status epilepticus in mice

Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies

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