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Beijing Da Xue Xue Bao Yi Xue Ban 2018 Dec;50(6):1102-1107

Department of Rheumatology and Immunology, Peking University First Hospital, Beijing 100034, China.

This case report concerns a 22-year-old woman who had been diagnosed with systemic lupus erythematosus (SLE). She had intermittent fever, butterfly erythema, photosensitivity, oral ulcers, and multiple arthralgia in the past seven years, but she did not adhere to regular treatments. The edema of the lower extremities and face aggravated in the recent two weeks, so she was admitted to our Department of Rheumatology and Clinical Immunology. Read More

Beijing Da Xue Xue Bao Yi Xue Ban 2018 Dec;50(6):1009-1013

Department of Rheumatology and Immunology, Peking University Third Hospital, Beijing 100191, China.

Objective: To investigate the clinical correlation between the manifestations of neuropsychiatric lupus (NPSLE) and brain magnetic resonance imaging (MRI).

Methods: Retrospective analysis of 65 neuropsychiatric lupus patients with brain MRI and clinical data from Peking University Third Hospital from January 2006 to October 2016, which was classified by rheumatologist, neurologists, and radiologists based on their brain MRI findings. The correlation between brain MRI findings and clinical manifestations was analyzed. Read More

Seizure 2018 Dec 5;64:59-64. Epub 2018 Dec 5.

Stichting Epilepsie Instellingen Nederland (SEIN), Achterweg 5, Heemstede, 2103SW, Netherlands; NIHR University College London Hospitals Biomedical Research Centre, UCL Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom; Chalfont Centre for Epilepsy, Chalfont St Peter, Bucks, SL9 0RJ, United Kingdom.

The risk of epileptic seizures seems increased in several systemic autoimmune disorders including systemic lupus erythematosus, type 1 diabetes mellitus, myasthenia gravis, celiac disease, rheumatoid arthritis, Hashimoto's encephalopathy, psoriasis, multiple sclerosis, neuromyelitis optica, and bullous pemphigoid. Immune dysfunction may be partly responsible for this association. Elevated levels of pro-inflammatory cytokines, autoantibodies seen in these autoimmune disorders and antibodies against neuronal antigens may contribute to the etiopathogenesis of seizures and epilepsy associated to immune conditions. Read More

Seizure 2018 Dec 10;64:54-58. Epub 2018 Dec 10.

Nepal Epilepsy Association, Kathmandu 44600, Nepal. Electronic address:

Purpose: Most people with epilepsy live in low- or middle-income countries (LMICs) where there are relatively few doctors. Over 50% of people with epilepsy in these countries are untreated so other models of care are needed. In this report we evaluate a novel model of care. Read More

Brain 2018 Dec 15. Epub 2018 Dec 15.

Consultant in Neuropathology, Centro Hospitalar São João, Porto, Portugal.

Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accumulation of lipofuscin can be challenging. Mutation of CLN6 has emerged as the most important cause of recessive Kufs disease but, remarkably, is also responsible for variant late infantile ceroid lipofuscinosis. Read More

IEEE Trans Neural Syst Rehabil Eng 2018 Dec 11. Epub 2018 Dec 11.

Accurate epileptogenic focus localization is required prior to surgical resection of brain tissue for treatment of patients with antiepileptic drug resistant (intractable) epilepsy. This clinical need is only partially fulfilled through a subjective, and at times inconclusive, evaluation of the recorded electroence-phalogram (EEG) at seizures' onset (the so-called gold standard for focus localization in epilepsy). We herein present a novel method of multivariate analysis of the EEG that appears to be very promising for an objective and robust localization of the epileptogenic focus at seizures' onset. Read More

J Vet Intern Med 2018 Dec 18. Epub 2018 Dec 18.

Queen's Veterinary School Hospital, Department of Veterinary Medicine, University of Cambridge, Cambridge, United Kingdom.

A 1-year, 8-month-old Rhodesian Ridgeback was presented with obtundation, ambulatory tetraparesis, and myoclonus. Initial clinical findings included ionized hypercalcemia with an apparent marked increase in parathyroid hormone, thrombocytopenia, and nonregenerative anemia. Low numbers of circulating atypical cells were noted on blood film evaluation. Read More

Rev Neurol 2019 Jan;68(1):18-22

Hospital de Mataro. Consorci Sanitari del Maresme, 08304 Mataro, Espana.

Introduction: Encephalitis due to anti-NMDA receptor antibodies is an acute and severe condition, which, if identified and treated quickly, can entail recovery without any sequelae. It is more prevalent in young females and is often associated with an underlying tumour. The initial symptoms are usually of a psychiatric nature, and in a matter of days or weeks take on a characteristic neurological profile. Read More

Sci Rep 2018 Dec 18;8(1):17935. Epub 2018 Dec 18.

Hotchkiss Brain Institute, University of Calgary, Calgary, Canada.

Changes in brain activity can entrain cerebrovascular dynamics, though this has not been extensively investigated in pathophysiology. We assessed whether pathological network activation (i.e. Read More

J Neural Eng 2018 Dec 18. Epub 2018 Dec 18.

Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, UNITED STATES.

Objective: Closed-loop implantable neural stimulators are an exciting treatment option for patients with medically refractory epilepsy, with a number of new devices in or nearing clinical trials. These devices must accurately detect a variety of seizure types in order to reliably deliver therapeutic stimulation. While effective, broadly-applicable seizure detection algorithms have recently been published, these methods are too computationally intensive to be directly deployed in an implantable device. Read More

Psychol Med 2018 Dec 18:1-8. Epub 2018 Dec 18.

VA Boston Healthcare System,Boston, MA,USA.

Background: Anti-NMDA receptor (NMDAr) encephalitis is the most common autoimmune encephalitis in adults. It mimics psychiatric disorders so often that most patients are initially referred to a psychiatrist, and many are misdiagnosed. Without prompt and effective treatment, patients are likely to suffer a protracted course with significant residual disability, or death. Read More

Expert Rev Neurother 2018 Dec 18:1-12. Epub 2018 Dec 18.

a Mid-Atlantic Epilepsy and Sleep Center , Bethesda , MD , USA.

Introduction: Perampanel is an antiepileptic drug approved in the USA and Europe as monotherapy and adjunctive therapy for focal onset seizures and as adjunctive therapy for generalized tonic-clonic seizures. Areas covered: This an overview of animal data, pharmacokinetics, and clinical data published on Perampanel indexed in PubMed. Expert opinion: Pharmacological studies suggest that perampanel acts via noncompetitive antagonism of the ionotropic AMPA receptor of glutamate. Read More

Clin Neurophysiol Pract 2018 21;3:174-176. Epub 2018 Apr 21.

Department of Neurology and Weill Institute for Neurosciences, University of California, San Francisco, CA 94143, USA.

Aims: To present two patients with medically-refractory focal epilepsy who, following non-diagnostic intracranial monitoring studies, had seizures localized by chronic ambulatory electrocorticography with an implanted neurostimulation device.

Methods: Case reports with clinical details and electrocorticograms showing seizures.

Results: Using electrodes placed at the suspected seizure onset zones, the neurostimulator recorded seizures in both patients at long intervals following implantation (49 days and 7. Read More

Intractable Rare Dis Res 2018 Nov;7(4):245-250

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

Because biallelic variants have been reported in patients with neurodevelopmental disorders associated with various degrees of developmental delay, intractable seizures, and distinctive features; this condition is recognized as an autosomal recessive disorder. Previously, eleven patients have been reported and most of them have compound heterozygous variants, leading to premature termination. In these patients, all reported variants were unique and there were no common pathogenic variants identified. Read More

Pak J Med Sci 2018 Nov-Dec;34(6):1424-1428

Dr. Misbah Anjum, MBBS, FCPS. Department of Pediatric Medicine Unit III, National Institute of Child Health, Karachi, Pakistan.

Background And Objective: Infantile spasm (IS) is one of the severe epileptic encephalopathies which affect children in early two years of life. Our objective was to determine the clinical profile, etiology and outcome of treatment in children with infantile spasms attending tertiary care hospital at Karachi, Pakistan.

Methods: This is retrospective study of 36 patients out of 94 registered as IS, aged three months to two years, managed and followed up at Aga Khan University Hospital, Karachi, from 2010 to 2015. Read More

Front Neurol 2018 3;9:1016. Epub 2018 Dec 3.

Division of Genetics and Metabolism, Children's National Health System, Washington, DC, United States.

Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to control seizures, or to decrease the risk of neurodegeneration. We translate the currently-known literature on metabolic etiologies of epilepsy (268 inborn errors of metabolism belonging to 21 categories, with 74 treatable errors), into a 2-tiered diagnostic algorithm, with the first-tier comprising accessible, affordable, and less invasive screening tests in urine and blood, with the potential to identify the majority of treatable conditions, while the second-tier tests are ordered based on individual clinical signs and symptoms. This resource aims to support the pediatrician, neurologist, biochemical, and clinical geneticists in early identification of treatable inborn errors of metabolism in a child with seizures, allowing for timely initiation of targeted therapy with the potential to improve outcomes. Read More

Front Neurol 2018 30;9:995. Epub 2018 Nov 30.

American University of Beirut Medical Center, Beirut, Lebanon.

To evaluate prospectively the frequency of epileptogenic lesions in a consecutive cohort of elderly patients presenting with new onset unprovoked seizures, and who underwent a complete evaluation including dedicated epilepsy protocol MRI. We included all consecutive patients 60 years or older who participated in a prospective study on new onset epilepsy. The work-up included the acquisition of a dedicated epilepsy protocol MRI and a 3 h video/EEG recording. Read More

Nat Rev Neurol 2018 Dec 17. Epub 2018 Dec 17.

Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Anti-myelin oligodendrocyte glycoprotein (MOG) antibodies (MOG-Abs) were first detected by immunoblot and enzyme-linked immunosorbent assay nearly 30 years ago, but their association with multiple sclerosis (MS) was not specific. Use of cell-based assays with native MOG as the substrate enabled identification of a group of MOG-Ab-positive patients with demyelinating phenotypes. Initially, MOG-Abs were reported in children with acute disseminated encephalomyelitis (ADEM). Read More

Proc Natl Acad Sci U S A 2018 Dec 17. Epub 2018 Dec 17.

Institute for Regenerative Medicine, Texas A&M Health Science Center College of Medicine, Temple, TX 76502;

Medial ganglionic eminence (MGE)-like interneuron precursors derived from human induced pluripotent stem cells (hiPSCs) are ideal for developing patient-specific cell therapy in temporal lobe epilepsy (TLE). However, their efficacy for alleviating spontaneous recurrent seizures (SRS) or cognitive, memory, and mood impairments has never been tested in models of TLE. Through comprehensive video- electroencephalographic recordings and a battery of behavioral tests in a rat model, we demonstrate that grafting of hiPSC-derived MGE-like interneuron precursors into the hippocampus after status epilepticus (SE) greatly restrained SRS and alleviated cognitive, memory, and mood dysfunction in the chronic phase of TLE. Read More

Epilepsy Behav 2018 Dec 14. Epub 2018 Dec 14.

Departments of Psychiatry and Neurology, Indiana University School of Medicine, 705 Riley Hospital Drive, ROC 4300, Indianapolis, IN 46202, United States of America. Electronic address:

Child neurologists should provide initial care for the mental health problems of children and adolescents with epilepsy. Attention deficit hyperactivity disorder (ADHD), autism spectrum disorders are common comorbidities of childhood epilepsy. The psychotropic drugs used to treat mental health disorders can be safely employed in children with seizures. Read More

Orphanet J Rare Dis 2018 Dec 17;13(1):226. Epub 2018 Dec 17.

Department of Pediatrics, MacKay Children's Hospital, No. 92, Sec. 2, Chung-Shan North Road, Taipei, Taiwan.

Background: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies. Given its clinical heterogeneity, GAMOS is believed to be a genetically heterogenous group of disorders. Recently, it has been reported that mutations in KEOPS-encoding genes, including the OSGEP gene, were responsible for GAMOS. Read More

Pharmaceutics 2018 Dec 16;10(4). Epub 2018 Dec 16.

Department of Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Flupirtine, a nonopioid analgesic drug, is effective in treating neonatal seizures. However, its brain delivery and pharmacokinetics are unknown in neonatal mammals. The purpose of this study was to determine the pharmacokinetics of flupirtine and the formation of its active metabolite D-13223 in various tissues such as brain in neonate animals. Read More

Medicine (Baltimore) 2018 Dec;97(50):e13675

Department of Neurosurgery.

Glioma is the most common malignant tumor in the central nervous system (CNS). Lower-grade gliomas (LGG) refer to Grade II and III gliomas. In LGG patients, seizure often appears as an initial symptom and play an important role in clinical performance and quality of life of the patients. Read More

Medicine (Baltimore) 2018 Dec;97(50):e13665

Department of Neurosurgery, First Hospital of Jilin University.

Rationale: Arachnoid cysts are relatively common intracranial space-occupying lesions; nevertheless, familial intracranial arachnoid cysts are extremely rare, with only a few cases having been reported.

Patient Concerns: The proband was a 7-year-old girl who had experienced generalized tonic-clonic seizures 5 times in the 8 days prior to admission. Nine months later, her 6-year-old younger female cousin presented to us with a 3-day history of headache. Read More

Medicine (Baltimore) 2018 Dec;97(50):e13626

Department of Geriatrics.

Rationale: Sodium valproate is a widely used antiepileptic drug and also used to prevent postoperative seizures in neurosurgery. Anemia caused by sodium valproate is occasionally reported and most are from pediatric patients.

Patient Concerns: We present the case of a 79-year-old man who developed anemia in the setting of a short-term sodium valproate therapy for the prevention of postoperative seizures. Read More

Seizure 2018 Nov 26;64:50-53. Epub 2018 Nov 26.

Clinique d'Investigation Neuro-Cardiaque (CINC), CHU Sainte-Justine, Montreal, Canada.

Purpose: Children with complex congenital heart disease (CHD) experience high incidence of perioperative seizures. Population-based studies also report high epilepsy co-morbidity in CHD. Given the increasing survival of patients with CHD and the interference of seizures and epilepsy with the long-term outcomes, characterizing them in this population is of high relevance. Read More

Cortex 2018 Nov 17;113:1-14. Epub 2018 Nov 17.

Neuroscience and Aphasia Research Unit, Division of Neuroscience and Experimental Psychology, School of Biological Sciences, University of Manchester, UK; MRC Cognition and Brain Sciences Unit, University of Cambridge, UK. Electronic address:

In neurosurgery there are several situations that require transgression of the temporal cortex. For example, a subset of patients with temporal lobe epilepsy require surgical resection (most typically, en-bloc anterior temporal lobectomy). This procedure is the gold standard to alleviate seizures but is associated with chronic cognitive deficits. Read More

Am J Med Genet A 2018 Dec 17. Epub 2018 Dec 17.

Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

Autosomal recessive PRUNE1 mutations are reported to cause a severe neurodevelopmental disorder with microcephaly, hypotonia, and brain malformations. We describe clinical and neuropathological features in a cohort of nine individuals of Cree descent who, because of a founder effect, are homozygous for the same PRUNE1 mutation. They follow the course of a combined neuromuscular and neurodegenerative disease, rather than a pure failure of normal development. Read More

Front Genet 2018 30;9:594. Epub 2018 Nov 30.

Developmental and Behavioral Pediatric Department - Child Primary Care Department, Brain and Behavioral Research Unit of Shanghai Institute for Pediatric Research and MOE Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Autism spectrum disorder (ASD) is a group of clinically and genetically heterogeneous neurodevelopmental disorders. Recent tremendous advances in the whole exome sequencing (WES) enable rapid identification of variants associated with ASD including single nucleotide variations (SNVs) and indels. To further explore genetic etiology of ASD in Chinese children with negative findings of copy number variants (CNVs), we applied WES in 80 simplex families with a single affected offspring with ASD or suspected ASD, and validated variations predicted to be damaging by Sanger sequencing. Read More

Front Neurol 2018 30;9:1023. Epub 2018 Nov 30.

Department of Physiology, Universidade Federal de São Paulo, São Paulo, Brazil.

Mesial temporal lobe epilepsy (MTLE) caused by hippocampal sclerosis is one of the most frequent focal epilepsies in adults. It is characterized by focal seizures that begin in the hippocampus, sometimes spread to the insulo-perisylvian regions and may progress to secondary generalized seizures. Morphological alterations in hippocampal sclerosis are well defined. Read More

Tohoku J Exp Med 2018 ;246(4):245-249

Department of Pediatrics, Al-Elwiyah Pediatric Teaching Hospital, Al-Rusafa Health Directorate, Ministry of Health.

During a daily neonatology practice, seizures are a continuous challenge as a common neurological disease with a wide range of underlying etiologies, and considerable risks of morbidity and mortality. This study aimed to clarify the rate, etiological factors and outcomes of neonatal seizures, and a possible foresight of neonatal death in Iraq. A prospective cohort study was conducted in neonates with seizures admitted to 3 major neonatology centers in Baghdad, Iraq, from 1 of December 2017 till the end of May 2018. Read More

Tohoku J Exp Med 2018 ;246(4):243

Executive Editor, Tohoku Journal of Experimental Medicine.

Arch Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, La Rabta Hospital, Jabbari, 1007 Tunis, Tunisia; Université Tunis El Manar, Faculté de Médecine de Tunis, 15, Rue Djebel Lakhdhar, 1007 La Rabta, Tunisia; LR12SPO2 les maladies héréditaires du métabolisme investigation et prise en charge, 1007 Tunis, Tunisia.

Purpose: To describe the management of infants with epileptic spasms (ESs) in a low-income country and identify factors predictive of their prognosis.

Material And Methods: We conducted a retrospective study in a university hospital in Tunis, Tunisia, over a period of 10 years. We included infants with recurrent ESs. Read More

Neurol Sci 2018 Dec 15. Epub 2018 Dec 15.

Department of Diagnostics and Applied Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.

People with epilepsy often suffer psychiatric symptoms or exhibit maladaptive personality characteristics which can impact them more than seizures. This case illustrates a selective association of a Theory of Mind dysfunction, including an impaired comparison of reality and others' behavior, with an obsessive-compulsive personality disorder in a patient with left temporal lobe epilepsy and crossed cognitive functions. The patient revealed visual memory deficits and impaired interpretation of other people's behavior, mental rigidity, and a tendency to formulate inflexible judgements. Read More

J Neurosurg 2018 Dec 14:1-10. Epub 2018 Dec 14.

OBJECTIVESeizures are the second-most common presenting symptom in patients with lobar arteriovenous malformations (AVMs). However, few studies have assessed the long-term effect of stereotactic radiosurgery (SRS) on seizure control. The authors of this study assess the outcome of SRS for these patients to identify prognostic factors associated with seizure control. Read More

Neuromuscul Disord 2018 Nov 22. Epub 2018 Nov 22.

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Pisa 56128, Italy. Electronic address:

We present a 29-year-old man with visual failure since childhood, muscle weakness, subtle heart muscle hypertrophy, and seizures who was initially considered to be affected by a mitochondrial encephalomyopathy because of the multiple unspecific involvement of brain, muscle and retinal tissues. Only the muscle biopsy findings correctly guided the genetic investigations and the identification of an autophagic vacuolar myopathy due to a homozygous mutation in CLN3. We believe that information in autophagic muscle disorders should further alert clinicians to consider CLN3 in individuals with vacuolar myopathy, especially if they have visual and cardiac involvement. Read More

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Departments of Medicine (S.S., Z.C., A.P., C.J.R., N.C.J., C.F., P.P., P.K., T.J.O.), Neurology (S.S., E.J.W., A.P., C.H., J.C., C.J.R., R.Y., C.F., P.P., P.K., T.J.O.), and Respiratory and Sleep Disorders Medicine (T.M., J.G.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Department of Neuroscience (S.S., Z.C., A.P., N.C.J., C.F., P.P., P.K., T.J.O.), Central Clinical School, Monash University; Department of Neurology (S.S., A.P., P.P., P.K., T.J.O.), The Alfred Hospital; and Neuropsychiatry Unit (S.F., D.V.), The Royal Melbourne Hospital and Melbourne Neuropsychiatry Centre, Australia.

Objective: To examine the prevalence and risk factors of sleep-disordered breathing (SDB) in individuals with epilepsy and psychogenic nonepileptic seizures (PNES).

Methods: We conducted a cross-sectional study of consecutive patients admitted for inpatient video-EEG monitoring at The Royal Melbourne Hospital, Australia, between December 1, 2011, and July 31, 2017. Participants underwent routine clinical investigations during their monitoring period including polysomnography, neurocognitive testing, and screening instruments of daytime somnolence, sleep quality, and quality of life. Read More

Neurology 2018 Dec 14. Epub 2018 Dec 14.

From the Departments of Neurology (D.M., B.S., R.S., D.G., V.N.P., A.M.G.) and Pediatrics (R.S., D.G.), Baylor College of Medicine, Houston, TX.

Objective: We characterized the epilepsy features and contribution to cognitive regression in 47 patients with duplication syndrome (MDS) and reviewed these characteristics in over 280 MDS published cases.

Methods: The institutional review board approved this retrospective review of medical records and case histories of patients with MDS.

Results: The average age at enrollment was 10 ± 7 years. Read More

J Pharmacol Exp Ther 2018 Dec 14. Epub 2018 Dec 14.

University of Washington School of Pharmacy.

Ganaxolone (GNX) is the 3β-methylated synthetic analog of the naturally occurring neurosteroid, allopregnanolone (ALLO). GNX is effective in a broad range of epilepsy and behavioral animal models and is currently in clinical trials designed to assess its anticonvulsant and antidepressant activities. The current studies were designed to broaden the anticonvulsant profile of GNX by evaluating its potential anticonvulsant activities following intravenous (IV) administration in treatment resistant models of status epilepticus (SE), to establish a pharmacokinetic (PK)/pharmacodynamics (PD) relationship, and to compare its PK and anticonvulsant activities to ALLO. Read More

J Pharmacol Exp Ther 2018 Dec 14. Epub 2018 Dec 14.

RTI International;

Synthetic cannabinoids (SCs) are novel psychoactive substances that are easily acquired, widely abused as a substitute for cannabis, and associated with cardiotoxicity and seizures. While the structures of these compounds are based upon scaffolds with known affinity and efficacy at the human cannabinoid type-1 receptor (hCB), upon ingestion or inhalation they can be metabolized to multiple chemical entities of unknown pharmacological activity. A large proportion of these metabolites are hydroxylated on the pentyl chain, a key substituent that determines receptor affinity and selectivity. Read More

Biomed Pharmacother 2019 Jan 2;109:2499-2512. Epub 2018 Dec 2.

Neuropsychopharmacology Laboratory, Department of Physiology and Pharmacology, Faculty of Medicine, Federal University of Ceará (UFC), Fortaleza, CE, Brazil. Electronic address:

We analyzed whether ivabradine (IVA), a hyperpolarization-activated cyclic nucleotide-gated (HCN) channel blocker, clinically used for angina and arrhythmia, had anticonvulsant, antioxidant and neuroprotective properties against classical seizure models. Potential molecular targets to IVA anticonvulsant effects were evaluated by molecular docking. Mice were treated with IVA (1, 10 or 20 mg/kg, IP) for 3 days, and 30 min after the last administration were injected with pentylenetetrazole (PTZ - 85 mg/kg, IP), pilocarpine (PILO 400 mg/kg, SC), picrotoxin (PICRO 10 mg/kg, IP). Read More

Behav Brain Res 2018 Dec 11. Epub 2018 Dec 11.

University of Saskatchewan, Department of Physiology, Saskatoon, SK, Canada.

Abnormalities in social behavior are a co-morbid symptom of idiopathic generalized epilepsies such as childhood absence epilepsy. The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) model is a spontaneously occurring absence epilepsy phenotype closely correlated to that of human absence epilepsies. Similar to the human conditions, GAERS display social abnormalities. Read More

Hum Pathol 2018 Dec 11. Epub 2018 Dec 11.

Department of Pathology, Seoul National University Hospital and Seoul National University College of Medicine, Seoul, Republic of Korea; Institute of Neuroscience, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

Multinodular and vacuolating neuronal tumor (MVNT) of the cerebrum is a recently recognized rare neuronal tumor, and its pathogenesis is unclear. We analyzed 7 cases of histologically typical MVNT: six were adults [mean age: 43.0years (range: 23-56)] and one was a child (10-year-old). Read More

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264G>C, p. Read More

J Physiol 2018 Dec 13. Epub 2018 Dec 13.

Univ. Grenoble Alpes, Grenoble Institut des Neurosciences, GIN, F-38000, Grenoble, France.

Key Points: Absence epilepsy is characterized by the occurrence of spike-and-wave discharges concomitant with an alteration of consciousness and associated with cognitive comorbidities. In a genetic model of absence epilepsy in the rat, the GAERS, we showed that spike-and-wave discharges are initiated in the barrel field primary somatosensory cortex that codes whisker-related information therefore playing an essential role in rodents' interactions with their environment. Sensory-information processing is impaired in the epileptic barrel field primary somatosensory cortex of GAERS with a delayed sensory-evoked potential and a duplicated neuronal response to whisker-stimulation in in vivo extracellular recordings. Read More

Mol Genet Genomic Med 2018 Dec 11. Epub 2018 Dec 11.

Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.

Background: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS-like) do not have an identifiable molecular defect. Some of these patients harbor alternative genetic defects that present overlapping features with AS. Read More

Clin Genet 2018 Dec 11. Epub 2018 Dec 11.

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed next generation sequencing analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia. Read More

Ugeskr Laeger 2018 Dec;180(50)

An old myth asserts, that the lunar phases influence epileptic seizures. This Christmas article examines the assertion by reviewing four articles about the correlation between the lunar phases and the frequency of seizures in patients with epilepsy and in patients with non-epileptic seizures. Hypotheses suggest, that sleep disturbances, melatonin level and nocturnal illumination may play a role in the relation between lunar phases and epileptic seizures. Read More

Ir Med J 2018 Sep 10;111(8):807. Epub 2018 Sep 10.

Department of Paediatric Anaesthesia, Critical Care Medicine and Pain Medicine, Our Lady’s Children’s Hospital, Crumlin, Dublin 12.

Aims We present a case of a five-year-old female admitted postoperatively to the Paediatric Critical Care Unit with a history of refractory seizures for which her parents were administering cannabis oil. Methods We discuss the issues surrounding cannabis prescription in Ireland and the role of parental autonomy in medication selection and administration. Results An administration regime was agreed upon following discussion with the child’s parents. Read More