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.

Serum Levels of Neuropeptides in Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep.

Background: Epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) is a syndrome of childhood, characterized by diffuse or generalized spike-wave activity in electroencephalography during non-rapid eye movement sleep. Neuropeptides have been demonstrated in several studies to function in the sleep-wake cycle and display convulsant and anticonvulsant features. In this study, we aimed to investigate the relationship between EE-SWAS and neuropeptides such as dynorphin, galanin, ghrelin, leptin, melatonin, and orexin.

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.

Isolated Unilateral EEG Findings in Juvenile Myoclonic Epilepsy: A Case Report.

Juvenile myoclonic epilepsy (JME) has well-defined clinical and electrophysiological features. On the other hand, large case series have shown that focal and asymmetrical discharges may accompany generalized epileptiform activities in JME. Although it is known that these non-generalized electrophysiological findings do not exclude the diagnosis of this syndrome, some findings may create confusion in the differential diagnosis.

Four Turkish families with hyperekplexia: A missense mutation and the exon 1-7 deletion in the GLRA1 gene.

Background: Hyperekplexia is a disease that progresses with excessive startle attacks and is included in the differential diagnosis of epilepsy and many movement disorders.

Methods: The WES results were validated in available family members by Sanger sequencing, or in the case of deletion, PCR followed by agarose gel electrophoresis was performed.

Results: WES analysis revealed the previously reported homozygous c.

Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.

Objective: To describe the clinical presentation and long-term clinical features of a molecularly confirmed cohort with Cohen syndrome.

Study Design: Twelve patients with Cohen syndrome aged 0.2-13.

Pretreatment electroencephalographic features in patients with childhood absence epilepsy.

Objective: To analyze the ictal and interictal electroencephalographic (EEG) features in newly diagnosed childhood absence epilepsy (CAE) and determine the association between seizure onset topography, interictal focal spike-wave discharges (FSWDs) and accompanying clinical features of absence seizures.

Methods: The authors searched the EEG database for a definite diagnosis of CAE according to ILAE 2017 criteria. Video-EEGs of untreated pediatric patients during sleep and wakefulness were evaluated retrospectively.

Progression of myoclonus subtypes in subacute sclerosing panencephalitis.

Objectives: Diagnostic criteria of subacute sclerosing panencephalitis (SSPE) include myoclonus, a well-recognized clinical feature. Here, we studied the electrophysiological features of myoclonus with regards to disease staging in SSPE patients.

Methods: We included 10 patients diagnosed with SSPE between 2010 and 2018, along with 21 healthy subjects.

Immune alterations in subacute sclerosing panencephalitis reflect an incompetent response to eliminate the measles virus.

In subacute sclerosing panencephalitis (SSPE) the persistence of measles virus (MeV) may be related to the altered immune response. In this study, cytokine responses of lymphocytes and monocytes were evaluated in SSPE compared to controls with non-inflammatory (NICON) and inflammatory (ICON) diseases. Patients with SSPE (n = 120), 78 patients with ICON and 63 patients with NICON were included in this study.

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.

Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome.

Proximal duplication of chromosome 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by developmental delay, dysmorphic craniofacial features, epilepsy, and severe speech delay. Here, we report a patient with West syndrome whose chromosome analysis revealed 14q11.2-21.

EEG abnormalities and long term seizure outcome in high functioning autism.

Electroencephalographic abnormalities may occur in autistic spectrum disorders (ASD) even in the absence of clinical seizures. These abnormalities may vary from nonspecific changes to epileptiform abnormalities and are more common compared to the overall population. The level of intelligence is a significant risk factor for epilepsy in ASD.

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.

Visually evoked startle response in a patient with epilepsy: a case report and review of the literature.

Both symptomatic and genetic, cases with hyperekplexia or startle seizures induced by acoustic stimuli, are previously reported. By contrast, startle response induced by visual stimuli is rare. While visual stimuli are more commonly associated with startle seizures, here we present an 11-year-old girl with epilepsy, motor-mental retardation, and spastic tetraparesis, who had repetitive startle responses by photic stimulation during the electroencephalogram recording, without any spike-and-wave discharges associated with the startles.

Startle and blink reflex in high functioning autism.

An important clinical feature of autism is the presence of atypical responses to sensory stimuli. In this study, we investigated if high functioning autistic patients had abnormalities in the blink reflex and the startle reaction to auditory or somatosensory stimuli. Fourteen patients aged between 7 and 16 years were included in the study.

Epilepsy Surgery in Children with Lesional Partial Epilepsies.

Aim: Surgery for epilepsy is a significant treatment alternative with favorable outcomes in the pediatric age group. In this study we present the surgical outcomes of pediatric population referred to our center.

Material And Methods: The clinical data of 126 patients (≤18 years) with lesional partial epilepsies operated in our center between 1995- 2011 were evaluated retrospectively.

Long-term outcomes in patients with West syndrome: an outpatient clinical study.

Purpose: Nearly half of all patients with seizure onset in the first year of life suffer from West syndrome (WS). The prognosis of epilepsy and psychosocial outcomes in children with WS are variable. This study was performed to examine the factors influencing the outcome of this patient population.

A decrease of regulatory T cells and altered expression of NK receptors are observed in subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is caused by a persistent measles virus infection. Regulatory mechanisms can be responsible for a failure of immunosurveillance in children with SSPE. In this study, peripheral blood cells of 71 patients with SSPE and 57 children with other diseases were compared phenotypically.

Granzyme B gene polymorphism associated with subacute sclerosing panencephalitis.

Background:  Subacute sclerosing panencephalitis (SSPE) is a late complication of measles infection. Immune dysfunction related to genetic susceptibility has been considered in disease pathogenesis. A functional single nucleotide polymorphism (SNP) of granzyme B gene (GZMB) reported in several pathologies may also be involved in susceptibility to SSPE.