8,227 results match your criteria Myoclonic Epilepsy Beginning in Infancy or Early Childhood
Neurology 2018 Dec 12. Epub 2018 Dec 12.
From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, New South Wales, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u.angeborene Stoffwechselerkrankungen, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Australia.
Objective: To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort.
Methods: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21. Read More
Epilepsia Open 2018 Dec 12;3(4):524-527. Epub 2018 Nov 12.
King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia.
Early onset epileptic encephalopathy (EOEE) has been used to encompass Ohtahara syndrome (early infantile epileptic encephalopathy [EIEE]), early myoclonic epilepsy, and many others. Multiple genes have been established to cause epileptic encephalopathy in the immature brain, and next-generation sequencing has accelerated the process of novel gene discovery. Many of the previously published candidate genes are still pending confirmatory reports or functional studies. Read More
Epilepsia Open 2018 Dec 1;3(4):495-502. Epub 2018 Nov 1.
Department of Pediatrics Showa University School of Medicine Shinagawa-ku, Tokyo Japan.
Objective: Vitamin B-dependent epilepsies are treatable disorders caused by variants in several genes, such as ,, and others. Recently, biallelic variants in formerly known as , were identified as a novel cause of vitamin B-dependent epilepsies. Our objective was to further delineate the phenotype of mutation. Read More
Cereb Cortex 2018 Dec 7. Epub 2018 Dec 7.
INMED, Aix-Marseille University, INSERM, Marseille, France.
Correlated activity in the entorhinal-hippocampal neuronal networks, supported by oscillatory and intermittent population activity patterns is critical for learning and memory. However, when and how correlated activity emerges in these networks during development remains largely unknown. Here, we found that during the first postnatal week in non-anaesthetized head-restrained rats, activity in the superficial layers of the medial entorhinal cortex (MEC) and hippocampus was highly correlated, with intermittent population bursts in the MEC followed by early sharp waves (eSPWs) in the hippocampus. Read More
Epileptic Disord 2018 Dec 10. Epub 2018 Dec 10.
Epilepsy and Sleep Disorders Unit, Department of Neurology, The Fourth Military Medical University, Xi'an, 710032, China.
To determine the electroclinical features of fixation-off sensitivity (FOS) in patients with idiopathic generalized epilepsy (IGE). We searched the EEG database using the terms "fixation-off sensitivity" and "idiopathic generalized epilepsy" over a four-year period from March 2014 to April 2018 in the Xijing Hospital, Xi'an, China. FOS was evaluated according to the technique proposed by Panayiotopoulos. Read More
Epileptic Disord 2018 Dec 10. Epub 2018 Dec 10.
Department of Clinical Neurophysiology and Epilepsy, Guy's & St Thomas' NHS Foundation Trust and Institute of Psychiatry, Psychology & Neuroscience, Division of Neuroscience, King's College London, UK.
The risk of seizure recurrence after a first unprovoked seizure is influenced by certain risk factors. To understand their effect in people with early diagnosed new epilepsy, we assessed the risk of recurrence of focal to bilateral tonic-clonic or generalized tonic-clonic seizures and the associated factors in a clinically well-characterized cohort of adults with a first unprovoked tonic-clonic seizure. We prospectively studied 150 consecutive adults with a first unprovoked tonic-clonic seizure and full clinical, EEG, and brain imaging assessment within the first four weeks. Read More
Epilepsy Behav 2018 Dec 7;90:122-128. Epub 2018 Dec 7.
Department of Neurology, Drammen Hospital, Vestre Viken Hospital Trust, Drammen, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Juvenile myoclonic epilepsy (JME) constitutes about 10% of all epilepsies. Because of executive dysfunction, people with JME may be prone to impulsivity and risk-taking behavior. Our aim was to investigate whether psychosocial issues associated with impulsivity are more prominent in people with JME than in those with other types of genetic generalized epilepsy (GGE). Read More
Epilepsy Res 2018 Oct 23;149:83-87. Epub 2018 Oct 23.
Epilepsy Center, University Medical Center, University of Freiburg, Germany; Faculty of Medicine, University of Freiburg, Germany. Electronic address:
Introduction: Frontal lobe epilepsy is the second most frequent origin of focal epilepsy. Various studies have discussed localizing aspects of ictal signs in frontal lobe epilepsy; the effect of age on semiological manifestations has, however, not been analyzed so far.
Material And Methods: We retrospectively analyzed video-documented semiological signs in a cohort of 122 consecutive patients aged 0-70 years (mean age: 24. Read More
Neuroimage Clin 2018 Nov 19. Epub 2018 Nov 19.
Department of Clinical Science, Intervention, and Technology, Karolinska Institute, Stockholm, Sweden; Department of Medical Radiation Physics and Nuclear Medicine, Karolinska University Hospital, Sweden.
Purpose: Characterize the static and dynamic functional connectivity for subjects with juvenile myoclonic epilepsy (JME) using a quantitative data-driven analysis approach.
Methods: Whole-brain resting-state functional MRI data were acquired on a 3 T whole-body clinical MRI scanner from 18 subjects clinically diagnosed with JME and 25 healthy control subjects. 2-min sliding-window approach was incorporated in the quantitative data-driven data analysis framework to assess both the dynamic and static functional connectivity in the resting brains. Read More
Am J Hum Genet 2018 Dec;103(6):1022-1029
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address:
Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies characterized by refractory seizures and developmental impairment. Sequencing approaches have identified causal genetic variants in only about 50% of individuals with DEEs. This suggests that unknown genetic etiologies exist, potentially in the ∼98% of human genomes not covered by exome sequencing (ES). Read More
Medicina (B Aires) 2018 ;78(6):436-439
Sección Epilepsia, Servicio de Neurología, Hospital Italiano Buenos Aires, Argentina. E-mail:
Lafora's disease is infrequent. However, it is one of the most common causes of progressive myoclonus epilepsy. We present the case of a 19-year-old woman, without comorbidities and normal development that started at 8 years with seizures and that from 15 years, had progressive cognitive deterioration. Read More
Elife 2018 12 5;7. Epub 2018 Dec 5.
Department of Psychological and Brain Sciences, University of Iowa, Iowa, United States.
In week-old rats, somatosensory input arises predominantly from external stimuli or from sensory feedback (reafference) associated with myoclonic twitches during active sleep. A previous study suggested that the brainstem motor structures that produce twitches also send motor copies (or corollary discharge, CD) to the cerebellum. We tested this possibility by recording from two precerebellar nuclei-the inferior olive (IO) and lateral reticular nucleus (LRN). Read More
Turk J Pediatr 2018 ;60(3):238-243
Departments of Pediatric Neurology, Istanbul University Istanbul Faculty of Medicine, İstanbul, Turkey.
Yıldız EP, Hızlı Z, Bektaş G, Ulak-Özkan M, Tatlı B, Aydınlı N, Çalışkan M, Özmen M. Efficacy of rufinamide in childhood refractory epilepsy. Turk J Pediatr 2018; 60: 238-243. Read More
Eur J Med Genet 2018 Nov 27. Epub 2018 Nov 27.
Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy. Electronic address:
Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and, in a single patient, with the so-called "Neuronal Ceroid Lipofuscinosis 14" (characterised by myoclonic seizures, cognitive regression, optic atrophy leading to visual loss, and progressive cortical and cerebellar atrophy).
Clinical Reports: We describe two new patients carrying two novel pathogenic mutations in the KCTD7 gene. Patient 1 (NM_153033. Read More
Cureus 2018 Aug 24;10(8):e3197. Epub 2018 Aug 24.
Internal Medicine, University of South Dakota Sanford School of Medicine, Sioux Falls, USA.
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence. We chronicle here an unusual case of an asymptomatic young male soccer player who presented with elevated liver enzymes. Read More
Brain Behav 2018 Nov 28:e01153. Epub 2018 Nov 28.
Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.
Introduction: During early childhood, typical human motor behavior reveals a gradual transition from automatic motor patterns to acquired motor skills, by the continuous interplay between nature and nurture. During the wiring and shaping of the underlying motor networks, insight into the neurological phenotype of developmental motor patterns is incomplete. In healthy, typically developing children (0-3 years of age), we therefore aimed to investigate the neurological phenotype of developmental motor patterns. Read More
PLoS One 2018 27;13(11):e0207948. Epub 2018 Nov 27.
Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States of America.
Biogenesis of membrane proteins is controlled by the protein homeostasis (proteostasis) network. We have been focusing on protein quality control of γ-aminobutyric acid type A (GABAA) receptors, the major inhibitory neurotransmitter-gated ion channels in mammalian central nervous system. Proteostasis deficiency in GABAA receptors causes loss of their surface expression and thus function on the plasma membrane, leading to epilepsy and other neurological diseases. Read More
Front Neurol 2018 6;9:845. Epub 2018 Nov 6.
Pharmacology/Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
Previous studies have shown that Khyber Pakhtunkhwa, Pakistan has a high incidence of epilepsy and a high proportion of low socioeconomic background and high treatment gap. Considering the changes over the past 20 years little is known about the current epidemiological characteristics of epilepsy in Khyber Pakhtunkhwa, Pakistan. The current study was focused to find the impact of various contributing factors on the clinical response to anti-epileptic drugs in the KP population, Pakistan. Read More
Cold Spring Harb Mol Case Stud 2018 Nov 19. Epub 2018 Nov 19.
Children's Hospital of Fudan University
Epileptic encephalopathies are severe seizure disorders accompanied by intellectual disability. Whole-exome sequencing technology has enabled the discovery of genetic mutations responsible for a wide range of diseases, and severe epilepsy and neurodevelopmental diseases are often associated with rare de novo mutations. We identified a novel de novo frameshift mutation in the PPP3CA gene encoding calcium-dependent protein phosphatase (calcineurin) catalytic subunit A (c. Read More
Nat Rev Neurol 2018 Nov 19. Epub 2018 Nov 19.
Mitochondrial DNA Replication Group, Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Durham, NC, USA.
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syndromes arising from mtDNA deletions. POLG mutations are the most common cause of inherited mitochondrial disorders, with as many as 2% of the population carrying these mutations. Read More
J Pers Med 2018 Nov 14;8(4). Epub 2018 Nov 14.
Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.
This study aims to investigate the effects of the three potassium channel genes , , and on increased susceptibility to epilepsy as well as on responsiveness to antiepileptic drugs (AEDs). The pharmacogenetic and case-control cohort ( = 595) consisted of 296 epileptic patients and 299 healthy individuals. Epileptic patients were recruited from the Pediatric Neurology clinic at the Queen Rania Al Abdullah Hospital (QRAH) in Amman, Jordan. Read More
Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:187-190
This paper proposes an objective methodology for the analysis of epileptic seizure count time series by developing a non-linear state space model. An iterative extended Kalman filter (IEKF) is employed for the estimation of the states of the non-linear state space model. In order to improve convergence of the IEKF, the recently proposed Levenberg-Marquardt variant of the IEKF is explored. Read More
World Neurosurg 2018 Nov 10. Epub 2018 Nov 10.
Department of Functional Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China. Electronic address:
Background: Myoclonic dystonia syndrome (MDS) is a rare inherited movement disorder characterized by the coexistence of myoclonic jerks and dystonia. Deep brain stimulation (DBS) is a promising treatment for patients with MDS that targets the globus pallidus internus or ventral intermediate nucleus (Vim) of the thalamus. However, there are few studies regarding the long-term effects of Vim DBS in patients with MDS and even fewer in those without gene mutations. Read More
Neurology 2018 Dec 9;91(23):1061-1063. Epub 2018 Nov 9.
From IRCCS (L.L., F.B. L.V., F.P., P.T.), Institute of Neurological Sciences of Bologna; Department of Biomedical and Neuromotor Sciences (L.L., F.B. L.F., L.A., G.L., F.P., P.T.), University of Bologna; and Child Neuropsychiatry Unit (G.C.), University Hospital Verona, Italy.
Tremor Other Hyperkinet Mov (N Y) 2018 1;8:577. Epub 2018 Oct 1.
Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK.
Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. Diagnosis is challenging due to the heterogeneous presentation and symptomatic overlap with other spinocerebellar ataxias. Symptoms vary according to age of onset, with a mean age at onset of 31 years. Read More
Eur Ann Otorhinolaryngol Head Neck Dis 2018 Nov 5. Epub 2018 Nov 5.
Service d'ORL et chirurgie cervico-faciale, faculté de médecine, hôpital Pitié-Salpêtrière, Sorbonne Université, AP-HP, 75013 Paris, France.
Introduction: Patients with MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) usually present with encephalomyopathy. However, progressive, recurrent cervicothoracic lipomatosis may be rarely observed.
Case Report: The authors report 4 cases of MERRF syndrome associated with lipomatosis. Read More
Epilepsy Behav 2018 Dec 6;89:99-104. Epub 2018 Nov 6.
Unidad de Epilepsia, Hospital Clínico San Carlos, Calle Profesor Martín Lagos s/n, 28040 Madrid, Spain.
Objective: Dysexecutive traits have been described in idiopathic generalized epilepsy (IGE), but studies mainly focused on juvenile myoclonic epilepsy (JME). To better understand the neuropsychology of IGE, more research is needed on syndromes other than JME, controlling potential confounding factors as the cognitive effects of valproate and epileptic discharges (ED). We describe the neuropsychological profile of a group of patients with different syndromes of IGE including simultaneous video electroencephalography (EEG). Read More
Eur Neurol 2018 Nov 2;80(3-4):128-129. Epub 2018 Nov 2.
Department of Neurology, Hospital Beatriz Ângelo, Loures, Portugal.
J Neurol 2018 Oct 31. Epub 2018 Oct 31.
Clinic of Paediatric Neurology and Laboratories, A.O.U Meyer, Viale Pieraccini n.24, 50139, Florence, Italy.
Background: Patients with Gaucher Disease (GD) exhibit three phenotypes, including type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic).
Aim: Identifying which GBA changes represent benign polymorphisms and which may result in disease-causing mutations is essential for diagnosis and genotype/phenotype correlations but is often challenging.
Results: Here, we describe a patient with type 3 GD, presenting with drug-resistant epilepsy, who bears a set of GBA polymorphic variants including the novel c. Read More
Acta Neurol Scand 2018 Oct 31. Epub 2018 Oct 31.
Department of Neurology, Drammen Hospital, Vestre Viken Hospital Trust, Drammen, Norway.
Objectives: Withdrawal of antiepileptic drugs (AEDs) has been discouraged in juvenile myoclonic epilepsy (JME). However, impulsivity as a consequence of executive dysfunction in JME may influence treatment adherence. The aim of the present study was to assess how common withdrawal of AEDs is in a large and representative JME group. Read More
Neurology 2018 Nov 24;91(21):e2010-e2019. Epub 2018 Oct 24.
From the Academic Center for Epileptology (J.A., C.U., P.C., J.v.D., R.L.); Center for Residential Epilepsy Care (F.T.), Kempenhaeghe, Heeze; Faculty of Electrical Engineering (J.A., C.U., P.C., J.V.D., R.L.), Eindhoven University of Technology; Leiden University Medical Centre (R.D.T.); SEIN-Stichting Epilepsie Instellingen Nederland, Heemstede and Zwolle (R.D.T., T.G., A.d.W., B.V., W.H.); and Brain Center Rudolf Magnus (J.v.A., F.L.), Department of Neurology, and Julius Center for Health Sciences and Primary Care (G.v.T., K.C.B.R.), University Medical Center Utrecht, the Netherlands.
Objective: To develop and prospectively evaluate a method of epileptic seizure detection combining heart rate and movement.
Methods: In this multicenter, in-home, prospective, video-controlled cohort study, nocturnal seizures were detected by heart rate (photoplethysmography) or movement (3-D accelerometry) in persons with epilepsy and intellectual disability. Participants with >1 monthly major seizure wore a bracelet (Nightwatch) on the upper arm at night for 2 to 3 months. Read More
J Neurol Neurosurg Psychiatry 2018 Oct 24. Epub 2018 Oct 24.
IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
Objective: To assess whether the involvement of the peripheral nervous system (PNS) belongs to the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease (sCJD).
Methods: We examined medical records of 117 sCJDVV2 (ataxic type), 65 sCJDMV2K (kuru-plaque type) and 121 sCJDMM(V)1 (myoclonic type) subjects for clinical symptoms, objective signs and neurophysiological data. We reviewed two diagnostic nerve biopsies and looked for abnormal prion protein (PrP) by western blotting and real-time quaking-induced conversion (RT-QuIC) in postmortem PNS samples from 14 subjects. Read More
Eur J Neurol 2018 Oct 23. Epub 2018 Oct 23.
Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital (PUMCH), CAMS and PUMC, Beijing, China.
Background And Purpose: The aim was to investigate whether abnormal TTTTA and TTTCA repeat expansions in introns of SAMD12, TNRC6A and RAPGEF2 are involved in the pathogenesis of familial cortical myoclonic tremor with epilepsy (FCMTE).
Methods: Five families diagnosed with FCMTE were included in the current genetic analysis. Whole-exome sequencing was performed in selected patients of each family. Read More
Cell Biosci 2018 16;8:53. Epub 2018 Oct 16.
1Institute of Life Sciences, Nalco Square, Chandrasekharpur, Bhubaneswar, Odisha 751023 India.
Background: The blood filtering organ in zebrafish embryos is the pronephros, which consists of two functional nephrons. Segmentation of a nephron into different domains is essential for its function and is well conserved among vertebrates. Zebrafish has been extensively used as a model to understand nephron segmentation during development. Read More
Front Neurol 2018 5;9:838. Epub 2018 Oct 5.
The Clinical Hospital of Chengdu Brain Science Institute, MOE Key Lab for Neuroinformation, Center for Information in Medicine, High-Field Magnetic Resonance Brain Imaging Key Laboratory of Sichuan Province, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, China.
The purpose of this study was to comprehensively evaluate alterations of resting-state spontaneous brain activity in patients with idiopathic generalized epilepsy (IGE) and its subgroups [juvenile myoclonic epilepsy (JME) and generalized tonic-clonic seizures (GTCS)]. Resting state functional magnetic resonance imaging (fMRI) data were acquired from 60 patients with IGE and 60 healthy controls (HCs). Amplitude of low frequency fluctuation (ALFF), global functional connectivity density (gFCD), local FCD (lFCD), and long range FCD (lrFCD) were used to evaluate spontaneous brain activity in the whole brain. Read More
Chin Med J (Engl) 2018 Oct;131(20):2519-2520
Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
Chin Med J (Engl) 2018 Oct;131(20):2518-2519
Department of Biosystems Engineering, Laboratory of Experimental and Computational Neuroscience, Sao Paolo, Brazil.
Chin Med J (Engl) 2018 Oct;131(20):2433-2438
Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong 251102, China.
Background: Treatment of myoclonic seizures in myoclonic epilepsy with ragged-red fibers (MERRFs) has been empirical and ineffective. Guideline on this disease is not available. Additional trials must be conducted to find more suitable treatments for it. Read More
J Clin Neurosci 2018 Oct 13. Epub 2018 Oct 13.
Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, Salzburg, Austria; Centre for Cognitive Neurosciences Salzburg, Salzburg, Austria; University for Medical Informatics and Health Technology, UMIT, Hall in Tirol, Austria.
Background: Several studies have applied electrophysiological techniques to physiologically characterize corticobasal degeneration (CBD).
Methods: We performed a systematic literature search of these studies and reviewed all 25 identified articles.
Results: Conventional electroencephalography (EEG) is usually normal even in the late stages of disease. Read More
Seizure 2018 Nov 14;62:99-105. Epub 2018 Sep 14.
Paediatric Neurology and Neurophysiology, Red Cross Children's War Memorial Hospital, Cape Town, South Africa; School of Child and Adolescent Health, University of Cape Town, South Africa. Electronic address:
Purpose: Dravet syndrome (DS) is a well-described, severe genetic epileptic encephalopathy with an increased risk of SUDEP. The incidence and genetic architecture of DS in African patients is virtually unknown, largely due to lack of awareness and unavailability of genetic testing. The clinical benefits of the available precision medicine approaches to treatment emphasise the importance of an early, correct diagnosis. Read More
Parkinsonism Relat Disord 2018 Oct 6. Epub 2018 Oct 6.
Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institute of Health, Bethesda, MD, USA.
Background: Many different oligosynaptic reflexes are known to originate in the lower brainstem which share phenomenological and neurophysiological similarities.
Objective: To evaluate and discuss the differences and aberrancies among these reflexes, which are hard to discern clinically using neurophysiological investigations with the help of a case report.
Methods: We describe the clinical and neurophysiological assessment of a young man who had a childhood history of opsoclonus-myoclonus syndrome with residual mild ataxia and myoclonic jerks in the distal extremities presenting with subacute onset total body jerks sensitive to sound and touch (in a limited dermatomal distribution), refractory to medications. Read More
Fundam Clin Pharmacol 2018 Oct 12. Epub 2018 Oct 12.
Department of Physiopathology, Institute of Rural Health, Jaczewskiego 2, Lublin, 20-090, Poland.
It has been demonstrated that certain angiotensin-converting enzyme (ACE) inhibitors and angiotensin AT receptor antagonists can possess anticonvulsant activity. The purpose of the current study was to examine the effect of aliskiren, a direct renin inhibitor and a novel antihypertensive drug, against pentylenetetrazole (PTZ)-induced clonic seizures in mice and on the protective activity of conventional antiepileptic drugs (AEDs) in this seizure model. Effects of aliskiren on the PTZ threshold and the protective efficacy of AEDs, such as clonazepam (CLO), phenobarbital (PB), valproate (VPA), and ethosuximide (ETX) in the PTZ test, were evaluated in adult Swiss mice. Read More
Ann Neurol 2018 Nov 8;84(5):766-780. Epub 2018 Nov 8.
Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.
Objective: Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name KCTD (potassium channel tetramerization domain), KCTD protein family members lack predicted channel domains. We sought to translate insight gained from yeast studies to uncover disease mechanisms associated with deficiencies in KCTD7 of unknown function. Read More
Epilepsy Res 2018 Nov 24;147:95-101. Epub 2018 Sep 24.
Department of Pediatrics, Section of Neurology, Children's Hospital of Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address:
Introduction: There is overlap in the electroclinical features of many childhood epilepsy syndromes, especially those presenting with multiple seizure types, such as epilepsy with myoclonic-atonic seizures (EMAS) and Lennox-Gastaut syndrome (LGS). This study aimed to determine the frequency of diagnosis switching and the factors influencing epilepsy syndrome diagnosis in a cohort of children with possible EMAS, as well as to explore the relationship between epilepsy syndrome diagnoses, key electroclinical features, and clinically relevant outcomes.
Methods: This is a cross-sectional retrospective chart review of children treated at the Children's Hospital of Colorado with a potential diagnosis of EMAS. Read More
Neurotoxicology 2018 Dec 30;69:130-140. Epub 2018 Sep 30.
Division of Neurotoxicology, National Center for Toxicological Research, Jefferson, 72079, AR, USA.
The initial goals of these experiments were to determine: 1) if blood-brain barrier (BBB) breakdown was a cause or an effect of METH-induced seizures; 2) all the brain regions where BBB is disrupted as seizures progress; and 3) the correlations between body temperature and vascular leakage and neurodegeneration. A fourth objective was added after initial experimentation to determine if sub-strain differences existed in adult male C57 B6 J (Jackson laboratories, JAX) versus C57 B6N (Charles River, CR) mice involving their susceptibility to BBB breakdown and seizure severity. With the 1st "maximal" intensity myoclonic-tonic seizure (MCT) varying degrees of IgG infiltration across the BBB (≤1 mm) were prominent in olfactory system (OS) associated regions and in thalamus, hypothalamus and neocortex. Read More
Epilepsia 2018 Nov 3;59(11):2086-2095. Epub 2018 Oct 3.
Department of Medical Physics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Objective: Structural and functional magnetic resonance imaging (MRI) studies have consistently documented cortical and subcortical abnormalities in patients with juvenile myoclonic epilepsy (JME). However, little is known about how these structural abnormalities emerge from the time of epilepsy onset and how network interactions between and within cortical and subcortical regions may diverge in youth with JME compared to typically developing children.
Methods: We examined prospective covariations of volumetric differences derived from high-resolution structural MRI during the first 2 years of epilepsy diagnosis in a group of youth with JME (n = 21) compared to healthy controls (n = 22). Read More
Front Neurol 2018 13;9:724. Epub 2018 Sep 13.
Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
We present the case of a 16-year-old boy with a family history of epilepsy who presented with acute respiratory failure, limb weakness, diabetes mellitus, sinus tachycardia, lactic acidosis, and pneumonia. He went on to develop cranial nerve palsy, myoclonus, generalized seizures, ataxia, recurrent pneumonia, and hypotension. Biochemical investigation revealed elevated lactate, pyruvate, and glucose levels. Read More
Ann Neurol 2018 Nov 25;84(5):788-795. Epub 2018 Oct 25.
Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Read More