Generalizability of electroencephalographic interpretation using artificial intelligence: An external validation study.

Objective: The automated interpretation of clinical electroencephalograms (EEGs) using artificial intelligence (AI) holds the potential to bridge the treatment gap in resource-limited settings and reduce the workload at specialized centers. However, to facilitate broad clinical implementation, it is essential to establish generalizability across diverse patient populations and equipment. We assessed whether SCORE-AI demonstrates diagnostic accuracy comparable to that of experts when applied to a geographically different patient population, recorded with distinct EEG equipment and technical settings.

Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case.

Malformations of cortical development (MCD) are a group of disorders affecting the normal development of the human cortex and are significant causes of delay in psychomotor development and epilepsy in children. Lissencephaly (smooth brain) forms a major group of brain malformations. Microtubules help in the migration of neuronal cells.

Overcoming traps and pitfalls leading to misinterpretation of normal EEG variants and variation of the background activity.

Normal EEG variants, especially the epileptiform variants, can be challenging to interpret because they often have sharp contours and may be confused with "epileptic" interictal activities. However, they can be recognized by the fact that "most spikes or sharp wave discharges of clinical import are followed by a slow wave or a series of slow deflections" (Maulsby, 1971). If there is no wave after the spike, electroencephalographers should be suspicious of artifacts and normal EEG variants.

The online educational tool "Roadmap to EEGs" significantly improved trainee performance in recognizing EEG patterns.

Objective: We created a framework to assess the competency-based EEG curriculum, outlined by the International League Against Epilepsy (ILAE) through a video-based online educational resource ("Roadmap to EEGs") and assessed its effectiveness and feasibility in improving trainees' knowledge.

Methods: Ten video-based e-learning modules addressed seven key topics in EEG and epileptology (normal EEG, normal variants, EEG artifacts, interictal epileptiform discharges (IED), focal seizures, idiopathic generalized epilepsy (IGE), and developmental and epileptic encephalopathies (DEE)). We posted the educational videos on YouTube for free access.

Hyperactivity of mTORC1- and mTORC2-dependent signaling mediates epilepsy downstream of somatic PTEN loss.

Gene variants that hyperactivate PI3K-mTOR signaling in the brain lead to epilepsy and cortical malformations in humans. Some gene variants associated with these pathologies only hyperactivate mTORC1, but others, such as , , and , hyperactivate both mTORC1- and mTORC2-dependent signaling. Previous work established a key role for mTORC1 hyperactivity in mTORopathies, however, whether mTORC2 hyperactivity contributes is not clear.

Epilepsy in Legius syndrome: Coincidence or causation?

Legius syndrome is a rare genetic disorder, caused by heterozygous SPRED1 pathogenic variants, which shares phenotypic features with neurofibromatosis type 1 (NF1). Both conditions typically involve café-au-lait macules, axillary freckling, and macrocephaly; however, patients with NF1 are also at risk for tumors, such as optic nerve gliomas and neurofibromas. Seizure risk is known to be elevated in NF1, but there has been little study of this aspect of Legius syndrome.

V2IED: Dual-view learning framework for detecting events of interictal epileptiform discharges.

Interictal epileptiform discharges (IED) as large intermittent electrophysiological events are associated with various severe brain disorders. Automated IED detection has long been a challenging task, and mainstream methods largely focus on singling out IEDs from backgrounds from the perspective of waveform, leaving normal sharp transients/artifacts with similar waveforms almost unattended. An open issue still remains to accurately detect IED events that directly reflect the abnormalities in brain electrophysiological activities, minimizing the interference from irrelevant sharp transients with similar waveforms only.

Adult-onset Kufs disease.

A young man from Pakistan had his first-ever tonic-clonic seizure while playing cricket. Since age 12 years, he had reported involuntary jerks and tremulousness, sometimes with falls, particularly with bright lights. Family history included a brother who developed seizures with myoclonus in his mid-20s and parental consanguinity.

Heterozygous RELN missense variants associated with genetic generalized epilepsy.

Purpose: The RELN gene encodes the secreted glycoprotein Reelin and has important functions in both developing and adult brains. In this study, we aimed to explore the association between the RELN and genetic generalized epilepsy (GGE).

Methods: We performed whole-exome sequencing on a cohort of 92 patients with GGE.

Ataxia and Diplopia: A New -Related Phenotype.

Objectives: The objective of this study was to describe the first patient with recurrent ataxia and diplopia in association with a pathogenic variant in .

Methods: We identified a girl with a heterozygous pathogenic variant and performed thorough phenotyping.

Results: A 10-year-old girl was previously well with normal intelligence.

Distinct Features of Interictal Activity Predict Seizure Localization and Burden in a Mouse Model of Childhood Epilepsy.

The epileptic brain is distinguished by spontaneous seizures and interictal epileptiform discharges (IEDs). Basic patterns of mesoscale brain activity outside of seizures and IEDs are also frequently disrupted in the epileptic brain and likely influence disease symptoms, but are poorly understood. We aimed to quantify how interictal brain activity differs from that in healthy individuals, and identify what features of interictal activity influence seizure occurrence in a genetic mouse model of childhood epilepsy.

Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy.

Objective: Pathogenic PRRT2 variants cause self-limited (familial) infantile epilepsy (SeLIE), which is responsive to sodium channel blocking antiseizure medications. The interictal EEG is typically normal. We describe a cohort of infants with PRRT2-related SeLIE with striking peri-ictal EEG abnormalities.

The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant.

Objective: Familial focal epilepsy with variable foci (FFEVF) is a rare type of focal epilepsy syndrome; it is associated with NPRL3 variant. However, relevant reports are rare in China. We aimed to analyze the clinical features of Chinese patients with FFEVF to understand further the differences between various NPRL3 variants and explored the effect of NPRL3 variant on mRNA.

Familial Epilepsy Associated With Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion: A Case Report.

Understanding the genetic basis of epilepsy may lead to an improved understanding of its etiology, more precise medical management, and ultimately improved outcomes. It is imperative for patients with epilepsy to obtain a molecular diagnosis, especially when strong familial epilepsy is discovered. We investigated a multi-generational family with epilepsy.

Normal variants and artifacts: Importance in EEG interpretation.

Overinterpretation of EEG is an important contributor to the misdiagnosis of epilepsy. For the EEG to have a high diagnostic value and high specificity, it is critical to recognize waveforms that can be mistaken for abnormal patterns. This article describes artifacts, normal rhythms, and normal patterns that are prone to being misinterpreted as abnormal.

[Basic Principles of Electroencephalogram].

Electroencephalogram(EEG)signals are mainly generated by postsynaptic potentials(EPSP)in the apical dendrites of pyramidal cells in the cortex. The mechanism of generation of interictal epileptiform discharges(IED)is paroxysmal depolarization shift(PDS). IEDs are negative towards the cortical surface and positive towards the white matter.

A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia.

To the best of our knowledge, this is the first case to address episodic ataxia (EA) as a possible phenotypic feature of HECW2-related disorder. This single case study describes a 26-year-old female born at term with mild intellectual disability, neonatal hypotonia, and a history of febrile seizures who presented with paroxysmal events since the age of 2. These episodes include frequent falls due to imbalance, dilated pupils, vertigo, diaphoresis, nausea, vomiting, and nystagmus.

[Tatton-Brown-Rahman Syndrome: Case report and DNMT3A variant not previously reported associated to the syndrome].

Unlabelled: Tatton Brown Rahman Syndrome (TBRS) is a recently described overgrowth syndrome caused by variants in the DNMT3A gene. The description of its phenotype and the differences with its main differential diagnoses are still under development, with very few individuals of Latin American origin described to date.

Objective: To describe a Chilean case of TBRS in order to broaden the phenotypic and genotypic spectrum of this new syndrome.