Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons.

Synonymous and noncoding single nucleotide polymorphisms (SNPs) in the KCNJ6 gene, encoding G protein-gated inwardly rectifying potassium channel subunit 2 (GIRK2), have been linked with increased electroencephalographic frontal theta event-related oscillations (ERO) in subjects diagnosed with alcohol use disorder (AUD). To identify molecular and cellular mechanisms while retaining the appropriate genetic background, we generated induced excitatory glutamatergic neurons (iN) from iPSCs derived from four AUD-diagnosed subjects with KCNJ6 variants ("Affected: AF") and four control subjects without variants ("Unaffected: UN"). Neurons were analyzed for changes in gene expression, morphology, excitability and physiological properties.

Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.

Neurodevelopmental disorders (NDDs) are heterogeneous genetic conditions of the central nervous system (CNS). Primary phenotypes of NDDs include epilepsy, loss of developmental skills, abnormal movements, muscle weakness, ocular anomalies, hearing problems, and macro- or microcephaly. NDDs occur due to variants in genes encoding proteins involved in the structure and function of CNS, thus interrupting its normal physiological role.

[Uncommon variants of speech disorder in children: congenital bilateral perisylvian syndrome].

This paper describes two cases of congenital bilateral perisylvian syndrome (CBPS), a rare disorder of late neuronal migration, which is characterized by language delay, intellectual disorders, epilepsy and bilateral perisylvian polymicrogyria. Pseudobulbar paralysis and orofacial muscles dyspraxia causing drooling and feeding difficulties are common for patients with CBPS. Communicational problems lead to low self-esteem and social maladaptation.

Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia.

Episodic ataxia is an umbrella term for a group of nervous system disorders that adversely and episodically affect movement. Episodes are recurrent, characterized by loss of balance and coordination and can be accompanied by other symptoms ranging from nausea to hemiplegia. Episodic Ataxia Type 1 (EA1) is an inherited, autosomal dominant disease caused by sequence variants in , which encodes the voltage-gated potassium channel, KCNA1 (Kv1.

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.

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.

Background: PCDH19-related epilepsy is a rare X-linked type of epilepsy caused by genomic variants of the Protocadherin 19 (PCDH19) gene. The clinical characteristics of PCDH19-related epilepsy are epileptic and non-epileptic symptoms with highly variable severity among patients.

Case Presentation: We present a case of a 4-year old female with PCDH19-related epilepsycaused by new variants in the PCDH19 gene.

Temporal dynamics of conflict adaptation across different conflict strengths.

Conflict adaptation is considered to reflect the adjustment of cognitive control, and it is critical for adaptive behavior. Despite intensive investigations on conflict adaptation, straightforward evidence on how changes in conflict strength influence the behavioral and neural dynamics of conflict adaptation remains scarce. To address this issue, we manipulated conflict strength by varying distractor-target congruency to investigate whether conflict strength per se or the expectancy of conflict strength triggers the adjustment of cognitive control.

Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy.

We present a family case of neonatal-onset -related epilepsy due to a novel intronic mutation. Three members of an Italian family (father and offspring) presented with neonatal-onset asymmetric tonic and clonic seizures with peculiar video-electroencephalography and aEEG features referring to sequential seizures. The father and the first son underwent standard of care treatments in line with current neonatal intensive care unit protocols, with a prolonged hospitalization before reaching full seizure control with carbamazepine.

A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.

Introduction: Congenital disorders of glycosylation (CDG) are inherited inborn errors of metabolism due to abnormal protein and lipid glycosylation that present with multi-systemic manifestations. The heterogeneity of CDG poses a serious diagnostic challenge; therefore, whole-exome sequencing (WES), which plays an increasingly important role in the molecular diagnosis of CDG, is used for examining patients with CDG.

Case Report: We report the case of a two-month-old male patient who developed developmental and epileptic encephalopathy (DEE) with intractable seizures and microcephaly.

EEG normal variants: A prospective study using the SCORE system.

Objective: To determine the prevalence and characteristics of normal variants in EEG recordings in a large cohort, and provide readers with typical examples of all normal variants for educational purposes.

Methods: Using the SCORE EEG system (Standardized Computer-Based Organized Reporting of EEG), we prospectively extracted EEG features in consecutive patients. In this dataset, we analyzed 3050 recordings from 2319 patients (mean age 38.

Empirical Bayesian localization of event-related time-frequency neural activity dynamics.

Accurate reconstruction of the spatio-temporal dynamics of event-related cortical oscillations across human brain regions is an important problem in functional brain imaging and human cognitive neuroscience with magnetoencephalography (MEG) and electroencephalography (EEG). The problem is challenging not only in terms of localization of complex source configurations from sensor measurements with unknown noise and interference but also for reconstruction of transient event-related time-frequency dynamics of cortical oscillations. We recently proposed a robust empirical Bayesian algorithm for simultaneous reconstruction of complex brain source activity and noise covariance, in the context of evoked and resting-state data.

[Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].

To summarize the clinical phenotype of patients with developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation. The clinical data of 4 patients with epileptic encephalopathy caused by SMC1A gene truncating variation from August 2016 to June 2020 were analyzed retrospectively. Related literatures up to October 2021 with the key words "SMC1A" "Developmental and epileptic encephalopathy 85" "SMC1A, epilepsy" and "SMC1A, truncating" in PubMed, CNKI, and Wanfang databases were searched.

Neuropathology findings in KCNQ2 neonatal epileptic encephalopathy.

Purpose: KCNQ2-epileptic encephalopathy (EE) is a neonatal epilepsy syndrome characterized by a typical clinical presentation and EEG recording, but without any brain or cortical abnormal development on MRI. Most of the patients have a severe developmental impairment. The epileptogenic mechanisms are thought to be the result of the changes of the M-current density causing a change of brain excitability.

[Alternating Hemiplegia of Childhood associated with a pathogenic variant of the ATP1A3 gene].

Introduction: Alternating hemiplegia of childhood (AHC), is a rare disease characterized by episodes of hemi/quadriplegia, dystonic postures, abnormal eye movements, and movement disorders. ATP1A3 gene mu tations are the most frequently associated with AHC.

Objective: To present a clinical case of AHC, where genetic study and the observation of home videos were of great diagnostic utility.

Random Neural Network Based Epileptic Seizure Episode Detection Exploiting Electroencephalogram Signals.

Epileptic seizures are caused by abnormal electrical activity in the brain that manifests itself in a variety of ways, including confusion and loss of awareness. Correct identification of epileptic seizures is critical in the treatment and management of patients with epileptic disorders. One in four patients present resistance against seizures episodes and are in dire need of detecting these critical events through continuous treatment in order to manage the specific disease.

Behavioral and ERP evidence that object-based attention utilizes fine-grained spatial mechanisms.

Valdes-Sosa, Cobo, and Pinilla (1998) introduced a transparent-motion design that provided evidence of object-based attention whereby attention embraces all features of an attentionally cued perceptual object including new unpredictable features such as a brief translation. Subsequent studies using variants of that design appeared to provide further behavioral, electrophysiological, and brain imaging evidence of object-based attention. Stoner and Blanc (2010) observed, however, that these previous results could potentially be explained by feature-based competition/normalization models of attention.

EEG Essentials.

Purpose Of Review: EEG is the best study for evaluating the electrophysiologic function of the brain. The relevance of EEG is based on an accurate interpretation of the recording. Understanding the neuroscientific basis for EEG is essential.

[Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants].

To summarize the phenotypes of epilepsy in patients with MBD5 gene variants. A total of 9 epileptic patients, who were treated in the Department of Pediatrics, Peking University First Hospital from July 2016 to September 2021 and detected with MBD5 gene pathogenic variants, were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively.

[Analysis of clinical and genetic characteristics of epilepsy associated with chromosome 16p11.2 microdeletion].

To investigate the clinical and genetic characteristics of epilepsy associated with chromosome 16p11.2 microdeletion. The patients (=10) with 16p11.