Search Our Scientific Publications & Authors

N Engl J Med 2019 04;380(16)

University of California, Los Angeles, Los Angeles, CA.

N Engl J Med 2019 04;380(16)

University of Tübingen, Tübingen, Germany

Epileptic Disord 2019 Apr 4. Epub 2019 Apr 4.

Antalya Education and Research Hospital - Neurology, Antalya.

To determine the integrity of colour perception, related to photic sensitivity, in patients with juvenile myoclonic epilepsy. Twenty-four patients with photoparoxysmal response, 27 patients without photoparoxysmal response, and 32 healthy individuals were investigated using the Farnsworth Munsell-100 Hue test to calculate error scores for total colour, blue/yellow, and red/green. No significant differences were observed regarding blue/yellow, red/green or total error score between juvenile myoclonic epilepsy patients with or without photoparoxysmal response. Read More

Neuroimage Clin 2019 Mar 12;22:101759. Epub 2019 Mar 12.

The Clinical Hospital of Chengdu Brain Science Institute, MOE Key Lab for Neuroinformation, High-Field Magnetic Resonance Brain Imaging Key Laboratory of Sichuan Province, University of Electronic Science and Technology of China, Chengdu, 610054, China. Electronic address:

Epilepsy is marked by hypersynchronous bursts of neuronal activity, and seizures can propagate variably to any and all areas, leading to brain network dynamic organization. However, the relationship between the network characteristics of scalp EEG and blood oxygenation level-dependent (BOLD) responses in epilepsy patients is still not well known. In this study, simultaneous EEG and fMRI data were acquired in 18 juvenile myoclonic epilepsy (JME) patients. Read More

Epilepsy Behav 2019 Mar 15;94:59-64. Epub 2019 Mar 15.

Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, Trondheim, Norway; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.

Purpose: Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is the most common neurodegenerative disorder in childhood with survival until young adult age. Visual loss is followed by epilepsy, cognitive, neuropsychiatric, and motor symptoms. We have studied the evolution of electroencephalographic (EEG) and seizure characteristics. Read More

Epilepsy Behav 2019 Mar 12;93:102-112. Epub 2019 Mar 12.

Stichting Epilepsie Instellingen Nederland (SEIN), Achterweg 5, 2103 SW Heemstede, the Netherlands; Image Sciences Institute, University Medical Center Utrecht, P.O. Box 85500, 3508 GA Utrecht, the Netherlands.

Background: Epilepsy and migraine are paroxysmal neurological conditions associated with disturbances of cortical excitability. No useful biomarkers to monitor disease activity in these conditions are available. Phase clustering was previously described in electroencephalographic (EEG) responses to photic stimulation and may be a potential epilepsy biomarker. Read More

Epilepsy Behav 2019 Feb 26. Epub 2019 Feb 26.

Neurology Unit, Pisa University Hospital, Pisa, Italy. Electronic address:

Social cognition allows us to elaborate mental representations of social relationships and use them appropriately in a social environment. One of its main attributes is the so-called Theory of Mind (ToM), which consists of the ability to attribute beliefs, intentions, emotions, and feelings to self and others. Investigating social cognition may help understand the poor social outcome often experienced by persons with Idiopathic Generalized Epilepsies (IGE), who otherwise present with normal intelligence. Read More

Medicine (Baltimore) 2019 Feb;98(8):e14698

Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, China.

Rationale: The phenotypic spectrum caused by SCN2A mutations includes benign neonatal/infantile seizures, Ohtahara syndrome, infantile spasms, West syndrome, and other unclassified epileptic phenotypes. Mutations in SCN2A have been implicated in neonatal seizure cases. Here, we described a Chinese family with 2 members having juvenile-onset myoclonus and identified a novel SCN2A point mutation within this family. Read More

Elife 2019 Feb 27;8. Epub 2019 Feb 27.

Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, Canada.

Neurons throughout the mammalian brain possess non-motile cilia, organelles with varied functions in sensory physiology and cellular signaling. Yet, the roles of cilia in these neurons are poorly understood. To shed light into their functions, we studied EFHC1, an evolutionarily conserved protein required for motile cilia function and linked to a common form of inherited epilepsy in humans, juvenile myoclonic epilepsy (JME). Read More

Epileptic Disord 2019 Feb;21(1):97-101

Department of Neurology and South Texas Comprehensive Epilepsy Center, UT Health San Antonio, San Antonio, Texas.

Since lacosamide was approved as an adjuvant agent for the treatment of medically refractory focal epilepsy over ten years ago, it is becoming more widely used for the treatment of idiopathic (genetic) generalized epilepsies. Several studies have demonstrated efficacy in reducing primary generalized tonic-clonic seizures (GTCS), but efficacy is less well-characterized for myoclonic and absence seizures. A 29-year-old man with juvenile myoclonic epilepsy and medically refractory GTCS on a combination of levetiracetam and topiramate was started on lacosamide adjunctive therapy with the plan to replace topiramate. Read More

Epileptic Disord 2019 Feb;21(1):30-41

Program in Genetics and Genome Biology, The Hospital for Sick Children, Institute of Medical Science, University of Toronto, Toronto, Division of Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, USA.

Rolandic (RE), childhood absence (CAE) and juvenile myoclonic (JME) epilepsy encompass centrotemporal sharp waves, 3-Hz spike waves and >3-Hz spike or polyspike waves, respectively. Evidence abounds for genetic roles in all three syndromes, yet involved genes for the vast majority of patients remain unknown. It has long been proposed that while each disease is genetically complex, its specific EEG trait may represent a genetically simpler endophenotype. Read More

Neurol Sci 2019 Feb 13. Epub 2019 Feb 13.

Faculty of Medicine Department of Neurology and Clinical Neurophysiology, Muğla Sıtkı Koçman University, Muğla, Turkey.

The etiology of juvenile myoclonic epilepsy (JME) is still unknown and the process of elaboration of multiple genetic mechanisms is ongoing. The aim of this study was to investigate the potential role of NKCC1 (SCL12A2) and KCC2 (SCL12A5) in JME by comparing their DNA methylation status in patients with JME versus healthy controls. Forty-nine patients with JME and 39 healthy individuals were compared for DNA methylation at the 5CpG islands. Read More

Acta Neurol Scand 2019 May 27;139(5):469-475. Epub 2019 Feb 27.

Department of Neurology, Haeundae Paik Hospital, Busan, Korea.

Objectives: We aimed to evaluate structural and functional connectivity of patients with newly diagnosed juvenile myoclonic epilepsy (JME) compared to healthy subjects.

Methods: We enrolled 36 patients with a diagnosis of JME, who were newly diagnosed and drug-naïve. They underwent T1-weighted imaging, and structural volumes were calculated using FreeSurfer software. Read More

CNS Drugs 2019 Mar;33(3):195-208

Epilepsy Unit, Hôpital Gui de Chauliac, 80 Avenue Fliche, 34295, Montpellier Cedex 05, France.

Juvenile myoclonic epilepsy (JME) is both a frequent and a very characteristic epileptic syndrome with female preponderance. Treatment of JME in women of childbearing potential must consider multiple factors such as desire for pregnancy, use of contraception, seizure control and previously used antiepileptic drugs (AEDs). Approximately 85% of cases are well controlled with valproate, which remains the reference AED in JME but is nowadays considered unsafe for the expecting mother and her fetus. Read More

Epilepsia 2019 Feb 4. Epub 2019 Feb 4.

Cologne Center for Genomics, University of Cologne, Cologne, Germany.

Juvenile myoclonic epilepsy (JME) is a common syndrome of genetic generalized epilepsies (GGEs). Linkage and association studies suggest that the gene encoding the bromodomain-containing protein 2 (BRD2) may increase risk of JME. The present methylation and association study followed up a recent report highlighting that the BRD2 promoter CpG island (CpG76) is differentially hypermethylated in lymphoblastoid cells from Caucasian patients with JME compared to patients with other GGE subtypes and unaffected relatives. Read More

Cochrane Database Syst Rev 2019 01 28;1:CD010008. Epub 2019 Jan 28.

Department of Neurology, Xuanwu Hospital, Capital Medical University, Changchun Street 45, Beijing, China, 100053.

Background: Topiramate is a newer broad-spectrum antiepileptic drug (AED). Some studies have shown the benefits of topiramate in the treatment of juvenile myoclonic epilepsy (JME). However, there are no current systematic reviews to determine the efficacy and tolerability of topiramate in people with JME. Read More

Eur Neurol 2018 18;80(5-6):236-244. Epub 2019 Jan 18.

Department of Pediatrics, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.

Background: We aimed to evaluate the brain morphology of patients with genetic generalized epilepsy (GGE) compared to healthy subjects. In addition, we investigated whether there are differences in brain morphology among different GGE syndromes.

Methods: We enrolled 100 patients with a clinical diagnosis of GGE. Read More

Epilepsy Behav Case Rep 2019 4;11:31-34. Epub 2018 Nov 4.

Department of Human Neurosciences, Sapienza University of Rome, Italy.

The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22. Read More

Epileptic Disord 2018 Dec;20(6):479-489

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

Epilepsy Behav 2019 Jan 22;90:122-128. Epub 2019 Jan 22.

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

Neuroimage Clin 2019 19;21:101604. 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

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

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

Acta Neurol Scand 2019 Feb 15;139(2):192-198. Epub 2018 Nov 15.

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

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

Exp Neurol 2019 01 19;311:247-256. Epub 2018 Oct 19.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. Electronic address:

Dravet syndrome is a severe, early-onset epileptic encephalopathy frequently resulting from de novo mutations of SCN1A. Mice with heterozygous deletion of Scn1a (Scn1a) model many features of Dravet syndrome, including spontaneous seizures and premature lethality. Scn1a mice exhibit variable phenotype penetrance and expressivity dependent upon the strain background. 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

Epilepsia 2018 11 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

Epilepsy Curr 2018 Jul-Aug;18(4):269-278

15New York University, New York City, NY.

To update the 2004 American Academy of Neurology (AAN) guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs). 2004 criteria were used to systematically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. Forty-two articles were included. Read More

Epilepsy Curr 2018 Jul-Aug;18(4):260-268

15Department of Neurology, New York University Langone Comprehensive Epilepsy Center, New York.

To update the 2004 American Academy of Neurology (AAN) guideline for treating new-onset focal or generalized epilepsy (GE) with second- and third-generation antiepileptic drugs (AEDs). The 2004 AAN criteria was used to systematically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. Several second-generation AEDs are effective for new-onset focal epilepsy. Read More

Seizure 2018 Nov 17;62:17-25. Epub 2018 Sep 17.

Unidade de Pesquisa e Tratamento das Epilepsias, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address:

Purpose: Eye closure sensitivity (ECS) has been described as a reflex trait in juvenile myoclonic epilepsy (JME). However, there is no consensus regarding its significance on prognosis. The aim of this study is to clarify the long-term impact of ECS documented by a clinical interview and a video-EEG neuropsychological protocol (VNPP) in a series of 133 JME patients. Read More

Eur J Neurol 2018 Sep 17. Epub 2018 Sep 17.

Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht.

Background And Purpose: Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome for which treatment response is generally assumed to be good. We aimed to determine the prevalence and prognostic risk factors for refractoriness of JME.

Methods: We systematically searched PubMed and EMBASE and included 43 eligible studies, reporting seizure outcome after antiepileptic drug (AED) treatment in JME cohorts. Read More

Epilepsia 2018 09 31;59(9):1740-1752. Epub 2018 Jul 31.

University Hospital Vall d'Hebrón, Barcelona, Spain.

Objective: To analyze the effectiveness and tolerability of perampanel across different seizure types in routine clinical care of patients with idiopathic generalized epilepsy (IGE).

Methods: This multicenter, retrospective, 1-year observational study collected data from patient records at 21 specialist epilepsy units in Spain. All patients who were aged ≥12 years, prescribed perampanel before December 2016, and had a confirmed diagnosis of IGE were included. Read More

Seizure 2018 Oct 18;61:1-3. Epub 2018 Jul 18.

Child Neurology and Psychiatry Unit, ASST Civil Hospital -Brescia, Italy. Electronic address:

Purpose: Children with Childhood Absence Epilepsy (CAE) may develop generalized tonic-clonic seizure or juvenile myoclonic epilepsy. A possible evolution to Eyelid Myoclonia with Absence Epilepsy (EMA) hasn't been documented yet. We report the electroclinical features of a case series of children with CAE that evolved to EMA after therapy withdrawal. Read More

Seizure 2018 Aug 30;60:184-189. Epub 2018 Jun 30.

Unidade de Pesquisa e Tratamento das Epilepsias (UNIPETE), Universidade Federal de São Paulo (UNIFESP/EPM), São Paulo, SP, Brazil. Electronic address:

Purpose: To characterize semiology and EEG features of praxis-induced (PI) myoclonia and to describe the subjective perception of juvenile myoclonic epilepsy (JME) patients with this reflex trait.

Methods: Patients with JME who presented myoclonia during a Video-EEG Neuropsychological Protocol were selected. We analyzed the semiology of upper limbs myoclonia and the ictal EEG patterns on Video-EEG. Read More

Epilepsy Behav 2018 09 14;86:124-130. Epub 2018 Jul 14.

Laboratory of Clinical Neurophysiology, Psychiatry Department, University of São Paulo (USP) School of Medicine, São Paulo, SP, Brazil; Group for the Study of Cognitive and Psychiatric Disorders in Epilepsy-Clinics Hospital, University of São Paulo (USP), Brazil; Center for Interdisciplinary Research on Applied Neurosciences (NAPNA), University of São Paulo (USP), Brazil.

Executive deficits and impulsiveness are extensively reported in juvenile myoclonic epilepsy (JME). Previous literature suggests that intelligence may mediate these deficits. In this study, we evaluated and compared the performance of adults with JME with high and low intelligence quotient (IQ) and controls on tasks for executive function (EF) and impulsive traits. Read More

Epilepsy Behav 2018 09 13;86:102-107. Epub 2018 Jul 13.

Bakirkoy Research and Training Hospital for Psychiatry, Neurology, Neurosurgery, Department of Neurology, Istanbul, Turkey.

Purpose: The study aimed to examine the relationship between frontal lobe functions and interictal electroencephalography (EEG) discharge characteristics of patients with juvenile myoclonic epilepsy (JME).

Method: Thirty patients with JME who had EEG with asymmetrical generalized discharge (aEEG), 15 patients with JME who had EEG with symmetrical generalized discharge (sEEG), and 15 healthy controls were included in the study. To evaluate attention, the digit span and Corsi block tests were used; to evaluate memory, we applied verbal and visual memory tests; to evaluate frontal lobe functions, we used clock drawing, verbal fluency, the Stroop test, trail making, mental control, and antisaccadic eye movement tests as well as the continuous performance (CPT) tests. Read More

Front Neurol 2018 29;9:509. Epub 2018 Jun 29.

Department of Neurology, Epilepsy Center, University Medicine Greifswald, Greifswald, Germany.

Several studies on patients with juvenile myoclonic epilepsy (JME) showed widespread white matter (WM) abnormalities in the brain. The aim of this study was to investigate potential structural abnormalities in JME patients (1) compared to healthy controls, (2) among JME subgroups with or without photoparoxysmal responses (PPR), and (3) in correlation with clinical variables. A selection of 31 patients with JME (12 PPR positive) and 27 age and gender matched healthy controls (HC) were studied at a tertiary epilepsy center. Read More

Seizure 2018 Aug 28;60:139-143. Epub 2018 Jun 28.

Department of Neurology, GIPMER, New Delhi, India.

Purpose: To study modulation of epileptiform EEG discharges in patients with JME.

Method: 50 subjects with JME underwent a sleep deprived EEG recording along with conventional provocative methods and testing with cognitive tasks (CTs). Both categories of tests were evaluated for their effect on occurrence of IEDs. Read More

Epilepsia 2018 08 4;59(8):e125-e129. Epub 2018 Jul 4.

Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.

The clinical genetics of genetic generalized epilepsy suggests complex inheritance; large pedigrees, with multiple affected individuals, are rare exceptions. We studied a large consanguineous family from Turkey where extensive electroclinical phenotyping revealed a familial phenotype most closely resembling juvenile myoclonic epilepsy. For a subject to be considered affected (n = 14), a diagnostic electroencephalogram was required. Read More

Front Neurol 2018 14;9:448. Epub 2018 Jun 14.

Gansu Provincial Key Laboratory of Wearable Computing, School of Information Science and Engineering, Lanzhou University, Lanzhou, China.

Time-varying connectivity analyses have indicated idiopathic generalized epilepsy (IGE) could cause significant abnormalities in dynamic connective pattern within and between resting-state sub-networks (RSNs). However, previous studies mainly focused on the IGE-induced dynamic changes of functional connectivity (FC) in specific frequency band (0.01-0. Read More

J Clin Neurosci 2018 Sep 27;55:76-81. Epub 2018 Jun 27.

Department of Neurology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea. Electronic address:

The thalamus plays an important role in the modulation of both focal and generalized seizures, but the mechanisms related to seizures may be different among epilepsy syndromes. The aim of this study is to investigate the thalamic atrophy in different epilepsy syndromes. We enrolled a total of 72 patients with epilepsy (22 patients with temporal lobe epilepsy with hippocampal sclerosis, 21 patients with extra-temporal lobe epilepsy, and 29 patients with juvenile myoclonic epilepsy). Read More

Neurogenetics 2018 Aug 12;19(3):165-178. Epub 2018 Jun 12.

UPMC Univ Paris 06, Inserm, CNRS, APHP, Institut du Cerveau et la Moelle (ICM), Hôpital Pitié-Salpêtrière, Sorbonne Universités, Paris, France.

Genetic generalized epilepsies (GGE) (childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures (GTCS)) are mainly determined by genetic factors. Since few mutations were identified in rare families with autosomal dominant GGE, a polygenic inheritance was suspected in most patients. Recent studies on large American or European cohorts of sporadic cases showed that susceptibility genes were numerous although their variants were rare, making their identification difficult. Read More

Epilepsia 2018 08 25;59(8):1549-1556. Epub 2018 Jun 25.

Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University, Frankfurt am Main, Germany.

Objective: The objective of this study was to evaluate effectiveness, retention, and tolerability of brivaracetam (BRV) in genetic generalized epilepsies (GGE) in clinical practice.

Methods: A multicenter, retrospective cohort study recruiting all patients that started BRV in 2016 and 2017.

Results: A total of 61 patients (mean age = 29. Read More

Acta Med Okayama 2018 Jun;72(3):297-300

Department of Emergency and Critical Care Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.

A healthy 10-year-old boy vomited during sleep and later complained of abdominal pain; he became drowsy and uncommunicative. At the nearby hospital E.R. Read More

PLoS One 2018 20;13(6):e0199321. Epub 2018 Jun 20.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi-gene panel testing with next-generation sequencing. This study included patients with juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalized tonic-clonic seizures alone. Read More

Epileptic Disord 2018 Jun;20(3):169-177

Center of Neuroscience, Swammerdam Institute for Life Sciences, University of Amsterdam, The Netherlands, Department of Bioengineering, Instituto Superior Técnico, University of Lisbon, Portugal.

Idiopathic generalised epilepsies are characterised by widespread, symmetric, bilateral spike-and-wave discharges on EEG. Onset typically occurs in children and adolescents, but may also start in adulthood. These forms of adult onset constitute the focus of this review. Read More

Neurology 2018 Jul 13;91(2):82-90. Epub 2018 Jun 13.

From Miller School of Medicine (A.M.K.), University of Miami, FL; Bronson Methodist Hospital (E.A.), Kalamazoo, MI; Charleston Area Medical Center (D.G.), Charleston, WV; Mount Sinai Beth Israel (C.H.), New York, NY; Children's Hospital, Harvard Medical School (B.B.), Boston, MA; Cleveland Clinic Foundation (J.F.B.), OH; Department of Neurology (B.-A.K.), School of Medicine, Nashville, TN; Cooper Medical School (E.B.-D.), Rowan University, Cherry Hill, NJ; Alexian Brothers Medical Group (E.L.P.), Hoffman Estates, IL; School of Medicine (J.S.), University of California in Los Angeles; University of Vermont Medical Center (D.H.), Burlington; Children's Hospital (M.N.), University of California San Diego School of Medicine; School of Pharmacy (B.G.), University of Wisconsin, Madison; Emory University School of Medicine (E.F.), Atlanta, GA; and New York University (J.F.), New York.

Objective: To update the 2004 American Academy of Neurology guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs).

Methods: 2004 criteria were used to systemically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength.

Results: Forty-two articles were included. Read More