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epilepsy syndrome

Nicole A Hawkins, Nicole J Zachwieja, Alison R Miller, Lyndsey L Anderson, Jennifer A Kearney
A substantial number of mutations have been identified in voltage-gated sodium channel genes that result in various forms of human epilepsy. SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-onset epileptic encephalopathy. Dravet syndrome patients experience multiple seizures types that are often refractory to treatment, developmental delays, and elevated risk for SUDEP. The same sodium channel mutation can produce epilepsy phenotypes of varying clinical severity...
October 2016: PLoS Genetics
Antonio Augusto Moura da Silva, Jucelia Sousa Santos Ganz, Patricia da Silva Sousa, Maria Juliana Rodvalho Doriqui, Marizelia Rodrigues Costa Ribeiro, Maria Dos Remédios Freitas Carvalho Branco, Rejane Christine de Sousa Queiroz, Maria de Jesus Torres Pacheco, Flavia Regina Vieira da Costa, Francelena de Sousa Silva, Vanda Maria Ferreira Simões, Marcos Antonio Barbosa Pacheco, Fernando Lamy-Filho, Zeni Carvalho Lamy, Maria Teresa Seabra Soares de Britto E Alves
We report the early growth and neurologic findings of 48 infants in Brazil diagnosed with probable congenital Zika virus syndrome and followed to age 1-8 months. Most of these infants had microcephaly (86.7%) and craniofacial disproportion (95.8%). The clinical pattern included poor head growth with increasingly negative z-scores, pyramidal/extrapyramidal symptoms, and epilepsy.
November 2016: Emerging Infectious Diseases
Muhammad I Naseer, Adeel G Chaudhary, Mahmood Rasool, Gauthaman Kalamegam, Fai T Ashgan, Mourad Assidi, Farid Ahmed, Shakeel A Ansari, Syed Kashif Zaidi, Mohammed M Jan, Mohammad H Al-Qahtani
BACKGROUND: Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging. RESULTS: In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID), and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis...
October 17, 2016: BMC Genomics
Vera Dinkelacker, Sophie Dupont, Séverine Samson
The new classification of epilepsy stratifies the disease into an acute level, based on seizures, and an overarching chronic level of epileptic syndromes (Berg et al., 2010). In this new approach, seizures are considered either to originate and evolve in unilateral networks or to rapidly encompass both hemispheres. This concept extends the former vision of focal and generalized epilepsies to a genuine pathology of underlying networks. These key aspects of the new classification can be linked to the concept of cognitive curtailing in focal epilepsy...
October 17, 2016: Epilepsy & Behavior: E&B
Amara Krag, Gregory L Holmes
Infantile spasms, one of the catastrophic epilepsies, can be a diagnostic challenge since the clinical manifestations may be subtle and may mimic benign conditions. Because of the rarity of the condition, primary care physicians and pediatricians may never see a case of infantile spasms during their career and may be unfamiliar with the seizure semiology. This is a serious issue since there is evidence that early diagnosis and treatment may improve outcome. Patients and families are increasingly using the internet more than their physician as a source of medical information about epilepsy...
October 17, 2016: Epilepsy & Behavior: E&B
Udaya Seneviratne, Graham Hepworth, Mark Cook, Wendyl D'Souza
PURPOSE: To evaluate electroencephalographic (EEG) differences among syndromes in genetic generalized epilepsy (GGE) based on quantified data. METHODS: 24-hour ambulatory EEGs were recorded in consecutive patients diagnosed with GGE. All epileptiform EEG abnormalities were quantified into density scores (total duration of epileptiform discharges per hour). We conducted one-way analysis of variance (ANOVA) to find out differences in EEG density scores among the syndromes...
October 19, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
Tanya Bogoslovsky, Jessica Gill, Andreas Jeromin, Cora Davis, Ramon Diaz-Arrastia
Traumatic brain injury (TBI) is one of the leading causes of death and disability around the world. The lack of validated biomarkers for TBI is a major impediment to developing effective therapies and improving clinical practice, as well as stimulating much work in this area. In this review, we focus on different settings of TBI management where blood or cerebrospinal fluid (CSF) biomarkers could be utilized for predicting clinically-relevant consequences and guiding management decisions. Requirements that the biomarker must fulfill differ based on the intended context of use (CoU)...
October 18, 2016: Diagnostics
Juexin Wang, Dingding Shen, Geqing Xia, Wangzhen Shen, Robert L Macdonald, Dong Xu, Jing-Qiong Kang
Mutations in GABAA receptor subunit genes are frequently associated with epilepsy, and nonsense mutations in GABRG2 are associated with several epilepsy syndromes including childhood absence epilepsy, generalized tonic clonic seizures and the epileptic encephalopathy, Dravet syndrome. The molecular basis for the phenotypic heterogeneity of mutations is unclear. Here we focused on three nonsense mutations in GABRG2 (GABRG2(R136*), GABRG2(Q390*) and GABRG2(W429*)) associated with epilepsies of different severities...
October 20, 2016: Scientific Reports
Emanuela Dazzo, Emanuela Leonardi, Elisa Belluzzi, Sandro Malacrida, Libero Vitiello, Elisa Greggio, Silvio C E Tosatto, Carlo Nobile
Autosomal dominant lateral temporal epilepsy (ADTLE) is a focal epilepsy syndrome caused by mutations in the LGI1 gene, which encodes a secreted protein. Most ADLTE-causing mutations inhibit LGI1 protein secretion, and only a few secretion-positive missense mutations have been reported. Here we describe the effects of four disease-causing nonsynonymous LGI1 mutations, T380A, R407C, S473L, and R474Q, on protein secretion and extracellular interactions. Expression of LGI1 mutant proteins in cultured cells shows that these mutations do not inhibit protein secretion...
October 2016: PLoS Genetics
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Xiao-Yan Yang, Li-Li Long, Bo Xiao
OBJECTIVE: To study the role of video electroencephalogram (VEEG) versus regular electroencephalogram (REEG) in the diagnosis of epilepsy and localization of origin of epileptic discharge in children through a comparative analysis. METHODS: A retrospective analysis was performed for the clinical data of 223 children with clinical paroxysmal symptoms in the past and suspected epilepsy. VEEG and REEG were compared from the aspects of monitoring of clinical seizures, interictal epileptiform discharge (IED), localization of the origin of IED, and identification of non-epileptic seizures, and the detection rate of IED during awakening and sleep stages was also compared...
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
(no author information available yet)
The cover image, by Stéphanie Moortgat et al., is based on the Original Article Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy, DOI: 10.1002/ajmg.a.37792.
November 2016: American Journal of Medical Genetics. Part A
José A S Crippa, Ana C S Crippa, Jaime E C Hallak, Rocio Martín-Santos, Antonio W Zuardi
Animal studies and preliminary clinical trials have shown that cannabidiol (CBD)-enriched extracts may have beneficial effects for children with treatment-resistant epilepsy. However, these compounds are not yet registered as medicines by regulatory agencies. We describe the cases of two children with treatment-resistant epilepsy (Case A with left frontal dysplasia and Case B with Dravet Syndrome) with initial symptom improvement after the introduction of CBD extracts followed by seizure worsening after a short time...
2016: Frontiers in Pharmacology
Kazuhiro Muramatsu, Noriko Sawaura, Tomomi Ogata, Nishiki Makioka, Keiko Tomita, Toshino Motojima, Kuniko Ida, Kyoko Hazama, Hirokazu Arakawa
INTRODUCTION: Levetiracetam has a high tolerability and is effective against various seizure types and epilepsy syndromes. However, no study has specifically evaluated the efficacy of levetiracetam in children with refractory epilepsy based on magnetic resonance imaging (MRI) findings and the presence of intellectual disability (ID). METHODS: We retrospectively evaluated levetiracetam efficacy and safety in 49 pediatric patients who met the following inclusion criteria: (1) diagnosis of refractory epilepsy with first-line antiepileptic (AED) treatment ⩾2years, (2) younger than 20years old, and (3) received oral levetiracetam treatment for ⩾6months...
October 13, 2016: Brain & Development
Benjamin Johnstone, Dennis Velakoulis, Cheng Yi Yuan, Anthony Ang, Chris Steward, Patricia Desmond, Terence J O'Brien
OBJECTIVE: Exposure to early life childhood trauma has been implicated as resulting in a vulnerability to epileptic and psychogenic nonepileptic seizures (PNES), hippocampal atrophy, and psychiatric disorders. This study aimed to explore the relationships between childhood trauma, epilepsy, PNES, and hippocampal volume in patients admitted to a video-electroencephalogram monitoring (VEM) unit. METHODS: One hundred thirty-one patients were recruited from the Royal Melbourne Hospital VEM unit...
October 12, 2016: Epilepsy & Behavior: E&B
Wenchao Qiu, Yuan Gao, Chuanyong Yu, Ailiang Miao, Lu Tang, Shuyang Huang, Zheng Hu, Jing Xiang, Xiaoshan Wang
Purpose: Childhood absence epilepsy (CAE) is a common syndrome of idiopathic generalized epilepsy. However, little is known about the brain structural changes in this type of epilepsy, especially in the default mode network (DMN) regions. This study aims at using the diffusion tensor imaging (DTI) technique to quantify structural abnormalities of DMN nodes in CAE patients. Method: DTI data were acquired in 14 CAE patients (aged 8.64 ± 2.59 years, seven females and seven males) and 16 age- and sex-matched healthy controls...
2016: Frontiers in Human Neuroscience
Adam Strzelczyk, Arnfin Bergmann, Valeria Biermann, Stefan Braune, Lienhard Dieterle, Bernhard Forth, Lena-Marie Kortland, Michael Lang, Thomas Peckmann, Oliver Schöffski, Karl-Otto Sigel, Felix Rosenow
PURPOSE: The aim of this study was to evaluate physician adherence to the German Neurological Society guidelines of 2008 regarding initial monotherapy and to determine the cost-of-illness in epilepsy. METHODS: This was an observational cohort study using health data routinely collected at 55 outpatient neurology practices throughout Germany (NeuroTransData network). Data on socioeconomic status, course of epilepsy, anticonvulsive treatment, and direct and indirect costs were recorded using practice software-based questionnaires...
October 9, 2016: Epilepsy & Behavior: E&B
Sharon Shmuely, Sanjay M Sisodiya, W Boudewijn Gunning, Josemir W Sander, Roland D Thijs
INTRODUCTION: Premature mortality is a major issue in Dravet syndrome (DS). To improve understanding of DS premature mortality, we conducted a comprehensive literature search with a particular emphasis on SUDEP. METHODS: We searched PubMed, Embase, Web of Science, Cochrane, CENTRAL, CINAHL, PsycINFO, Academic Search Premier, and ScienceDirect on the following terms: "Dravet syndrome", "severe myoclonic epilepsy", "SMEI", "mortality", "survivors", "prognosis", and "death"...
October 9, 2016: Epilepsy & Behavior: E&B
Eric Segal, Helio Pedro, Karen Valdez-Gonzalez, Sarah Parisotto, Felicia Gliksman, Stephen Thompson, Jomard Sabri, Evan Fertig
BACKGROUND: When no chromosomal variations are identified, patients with suspected genetic etiologies can be tested using next-generation sequencing utilizing epilepsy panels. The primary objective of this study was to analyze the diagnostic yield of next-generation sequencing epilepsy panels in medication-resistant epilepsy subjects with non-clinically significant comparative genomic hybridization microarray results. METHODS: We completed a single-center retrospective review of the diagnostic yield of next-generation sequencing epilepsy panels in medication-resistant epilepsy subjects aged 18 years or less who had non-clinically significant comparative genomic hybridization microarray results from January 2011 to December 2014...
July 1, 2016: Pediatric Neurology
Rebecca J Weber, Kenneth D Gadow
The present study aimed to characterize the association of psychopathology with the clinical correlates of epilepsy, asthma, and allergy within and between neurobehavioral syndromes. Participants were consecutively evaluated youth (6-18 years, 75 % male) with autism spectrum disorder (ASD; n = 589) and non-ASD outpatient psychiatry referrals (n = 653). Informants completed a background questionnaire (parents) and a psychiatric symptom severity rating scale (parents, teachers). Youth with ASD had higher rates of epilepsy and allergy but not asthma than psychiatry referrals, even when analyses were limited to youth with IQ ≥ 70...
October 11, 2016: Journal of Abnormal Child Psychology
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