A conserved role for ALG10/ALG10B and the -glycosylation pathway in the sleep-epilepsy axis.

Congenital disorders of glycosylation (CDG) comprise a class of inborn errors of metabolism resulting from pathogenic variants in genes coding for enzymes involved in the asparagine-linked glycosylation of proteins. Unexpectedly to date, no CDG has been described for , encoding the alpha-1,2-glucosyltransferase catalyzing the final step of lipid-linked oligosaccharide biosynthesis. Genome-wide association studies (GWAS) of human traits in the UK Biobank revealed significant SNP associations with short sleep duration, reduced napping frequency, later sleep timing and evening diurnal preference as well as cardiac traits at a genomic locus containing a pair of paralogous enzymes and .

Distinctive sleep complaints and polysomnographic findings in antibody subgroups of autoimmune limbic encephalitis.

Introduction: Sleep disturbances are being increasingly recognized in association with autoimmune encephalitis (AIE). We investigated the prevalence of sleep-related symptoms and polysomnographic features of patients with AIE and the long-term outcomes in these patients in a multi-center, prospective study from Turkey.

Methods: We prospectively evaluated patients with definite AIE in a common database including demographics, AIE-related and sleep-related symptomatology.

Are the seizures under control or unnoticed? Electroclinical evaluation of epilepsy with eyelid myoclonia.

Purpose: In this study, patients with epilepsy with eyelid myoclonia (E-EM) were evaluated according to their EEG findings, seizure outcomes, and their consistency with the final ictal EEG findings. We also investigated the possible prognostic factors.

Methods: Patients with E-EM and at least two years of follow-up in our clinic were included in the study.

Long-term Prognosis of Childhood Absence Epilepsy.

Introduction: We aimed to investigate the long-term prognosis of childhood absence epilepsy (CAE), and identify factors associated with treatment outcomes.

Methods: Patients with a definitive diagnosis of CAE according to the International League Against Epilepsy 2021 criteria and with a minimum of 3-year follow-up duration were included. The children were divided according to the time of seizure control.

Electrodiagnostic methods to verify Guillain-Barré syndrome subtypes in Istanbul: A prospective multicenter study.

Background And Aims: This study aimed to identify the clinical characteristics and electrodiagnostic subtypes of Guillain-Barré syndrome (GBS) in Istanbul.

Methods: Patients with GBS were prospectively recruited between April 2019 and March 2022 and two electrodiagnostic examinations were performed on each patient. The criteria of Ho et al.

Continuous theta-burst stimulation in patients with drug-resistant epilepsy: A single-blind placebo-controlled cross-over pilot study.

Objectives: To evaluate the effect of continuous theta-burst stimulation (cTBS) in patients with drug-resistant epilepsy (DRE).

Methods: Twelve patients with DRE (five with idiopathic generalized and seven with focal epilepsy) were included in this cross-over design study and randomized to either first sham or first active stimulation, each applied for 5 consecutive days. A round coil over the vertex was used in generalized epilepsy or a figure-of-8 coil over the "epileptogenic area" in focal epilepsy.

Photosensitive occipital lobe epilepsy: Delineation of an under-recognized reflex epilepsy syndrome according to the new ILAE criteria and long-term follow-up.

Objective: Photosensitive occipital lobe epilepsy (POLE) should be suspected in patients with occipital lobe seizures triggered by photic stimuli, who have normal motor-mental development and brain imaging. We aimed to examine the clinical, electrophysiological, and prognostic features of POLE, which is a rare and under-investigated syndrome.

Methods: Archives from two tertiary epilepsy centers were retrospectively scanned and patients with normal neurological examination and cranial imaging were identified with POLE if they had: (1) seizures consistently triggered by photic stimuli; (2) non-motor seizures with visual symptoms; and (3) photosensitivity documented on EEG.

IVIg-induced headache: prospective study of a large cohort with neurological disorders.

Background: Intravenous immune globulin (IVIg) is frequently used in some neurological diseases and is also the first-line therapy in Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, and multifocal motor neuropathy. We aimed to evaluate the frequency and characteristics of headaches, which is one of the most common side effects of IVIg treatment.

Methods: Patients who received IVIg treatment for neurological diseases were prospectively enrolled in 23 centers.

The seizures that wake up with the patient: The effect of sleep deprivation and short sleep on epilepsy with eyelid myoclonia.

Objective: In this study, our aim was to demonstrate the effect of sleep deprivation, short sleep, and awakening on photoparoxysmal responses (PPR) and eyelid myoclonia (EM) in patients with Epilepsy with Eyelid Myoclonia (E-EM).

Methods: E-EM patients with at least 1 year of follow-up in our clinic were included in the study. Video EEG(v-EEG) analyses were divided into three periods of wakefulness, sleep, and awakening.

Ictal Blinking: Reappraisal of the Lateralization and Localization Value in Focal Seizures.

Although ictal blinking is significantly more frequent in generalized epilepsy, it has been reported as a rare but useful lateralizing sign in focal seizures when it is not associated with facial clonic twitching. This study aimed to raise awareness of eye blinking as a semiological lateralizing sign. Our database over an 11-year period reviewed retrospectively to assess patients who had ictal blinking associated with focal seizures.

Evaluation of absences and myoclonic seizures in adults with genetic (idiopathic) generalized epilepsy: a comparison between self-evaluation and objective evaluation based on home video-EEG telemetry.

People with focal epilepsies are known to under-document their seizures, but there is no data on self-documentation in adults with genetic (idiopathic) generalized epilepsy (GGE/IGE). We assessed the accuracy of self-evaluation of typical absences (TA) or myoclonic seizures (MS) in adults with IGE based on home video-EEG telemetry (HVET). Patients' own estimates were compared to the objective count of definite TA and MS, performed visually.

Let there be light: Inhibitory effect of photic stimulation on spike frequency in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.

Inhibition of epileptic discharges and seizures by sensory stimuli is an interesting phenomenon, but highly understudied. Here, we aimed to investigate the modulation of epileptiform discharges in patients with mesial temporal lobe epilepsy associated with hippocampal sclerosis (MTLE-HS) via photic stimulation (PS), based on a hypothesis that light stimulation may activate thalamocortical networks limiting the propagation of interictal epileptiform discharges. In order to do so, all EEGs performed in patients diagnosed with MTLE-HS were reviewed to include available recordings with definite epileptiform abnormalities.

Periodic electroclinical seizures following an ischemic stroke revealed by continuous-EEG.

Background: Periodic EEG patterns are mostly associated with critical illnesses and acute disruptions of the central nervous system. Periodic or cyclic seizures are extremely rare phenomena, most of which are nonconvulsive, only reported in critically ill patients. Here we report a patient with periodic focal impaired awareness seizures following a minor stroke and address possible pathophysiological mechanisms.

Different faces of frontal lobe epilepsy: The clinical, electrophysiologic, and imaging experience of a tertiary center.

Objective: Frontal lobe epilepsy (FLE) is the second most common epilepsy among drug-resistant focal epilepsies. Semiologic and electrophysiologic features of FLE present some difficulties because frontal lobe seizures are brief, accompanied by complex motor activities and emotional signs. The rich connectivity of the frontal lobe with other areas leads to the rapid and widespread propagation of seizure activity, which contribute to the difficulty of evaluating the semiologic and EEG patterns of the seizure.

The use of Modified Rio score for determining treatment failure in patients with multiple sclerosis: retrospective descriptive case series study.

Predicting treatment failure and switching effective treatment immediately in patients with multiple sclerosis (MS) is important. We aimed to evaluate the usefulness of Modified Rio score (MRS) in predicting treatment failure in MS patients. This is a retrospective study, which was conducted in two University Hospital.

How to diagnose and classify idiopathic (genetic) generalized epilepsies.

Idiopathic or genetic generalized epilepsies (IGE) constitute an electroclinically well-defined group that accounts for almost one third of all people with epilepsy. They consist of four well-established syndromes and some other rarer phenotypes. The main four IGEs are juvenile myoclonic epilepsy, childhood absence epilepsy, juvenile absence epilepsy and IGE with generalized tonic-clonic seizures alone.

Let's talk SUDEP.

Sudden unexplained death in epilepsy (SUDEP) is a devastating complication of epilepsy which was under-recognized in the recent past despite its clear importance. In this review, we examine the definition of SUDEP, revise current pathophysiological theories, discuss risk factors and preventative measures, disclose tools for appraising the SUDEP risk, and last but not least dwell upon announcing and explaining the SUDEP risk to the patients and their caretakers. We aim to aid the clinicians in their responsibility of knowing SUDEP, explaining the SUDEP risk to their patients in a reasonable and sensible way and whenever possible, preventing SUDEP.

Panayiotopoulos syndrome and Gastaut syndrome are distinct entities in terms of neuropsychological findings.

Background: Although the courses of self-limited focal epilepsies of childhood are considered as benign, a handful of studies suggested that these children may suffer from cognitive problems. Implementing tailor-made educational strategies would aid these children to reach their full potentials. Therefore, it is crucial to understand and differentiate the complete neuropsychological and behavioral profiles of these rather common syndromes.

Senile-Onset Subacute Sclerosing Panencephalitis, Presenting With Peculiar Findings.

Subacute sclerosing panencephalitis (SSPE) is a well-known childhood disease; however, the adult onset of SSPE cases are also widely recognized where the oldest case reported is 52 years old. We report a 61-year-old woman patient presenting with atypical clinical and EEG features, diagnosed with SSPE. Measles and SSPE have decreased dramatically owing to worldwide immunization programs; however, there are still reasons to consider SSPE in differential diagnosis even in patients presenting with atypical clinical findings and older ages.

Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases.

The adult-onset Alexander disease (AOAD) dramatically differs from the early onset AD with respect to clinical and neuroradiological findings. Herein we report the detailed clinical and neuroradiological findings of a Turkish family with AOAD. In all three cases, magnetic resonance imaging revealed marked atrophy of the mesencephalon, bulbus, and cervical spinal cord accompanied with signal abnormalities in the same regions along with supratentorial white matter.

Increased photosensitivity following short sleep in sleep deprived patients.

Introduction: We aimed to determine the effect of short day-time sleep on photoparoxysmal epileptic activity in sleep-deprived patients.

Methods: We retrospectively reviewed video-EEG recordings performed between 2003 and 2015. All recordings following at least four hours of sleep deprivation, including intermittent photic stimulation (IPS) both before and after sleep with any form of epileptiform activity were included.