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epileptic encephalopathy

Graciane Radaelli, Francisco de Souza Santos, Wyllians Vendramini Borelli, Leonardo Pisani, Magda Lahorgue Nunes, Fulvio Alexandre Scorza, Jaderson Costa da Costa
INTRODUCTION: Early infantile epileptic encephalopathy syndrome (EIEE), also known as Ohtahara syndrome, is an age-dependent epileptic encephalopathy syndrome defined by clinical features and electroencephalographic findings. Epileptic disorders with refractory seizures beginning in the neonatal period and/or early infancy have a potential risk of premature mortality, including sudden death. We aimed to identify the causes of death in EIEE and conducted a literature survey of fatal outcomes...
June 12, 2018: Epilepsy & Behavior: E&B
Robert Smigiel, Gerd Landsberg, Maximilian Schilling, Małgorzata Rydzanicz, Agnieszka Pollak, Anna Walczak, Anna Stodolak, Piotr Stawinski, Hanna Mierzewska, Maria M Sasiadek, Oliver J Gruss, Rafal Ploski
PTPN23 encodes a ubiquitously expressed non-receptor type, catalytically inactive protein-tyrosine phosphatase found in all cells including neurons. Recently, we have identified PTPN23 in a cellular screen for the systematic identification of novel regulators of survival motor neuron (SMN) function in the assembly of splicing factors (Uridine-rich small nuclear ribonucleoproteins, UsnRNPs). Based on three families, recessive PTPN23 variants have been associated with human disease tentatively, without functional studies...
June 13, 2018: European Journal of Human Genetics: EJHG
Akilandeswari Aravindhan, Kinal Shah, Jayoung Pak, Aravindhan Veerapandiyan
We describe a 10-month-old boy with early-onset epileptic encephalopathy who was found to have a hemizygous deletion in 9q33.3-q34.11 involving STXBP1 and SPTAN1 genes. He presented at the age of 2.5 months with frequent upper extremity myoclonus, hypotonia, and facial dysmorphisms. Interictal EEG showed multifocal polyspike and wave during wakefulness and sleep. Ictal EEG revealed low-amplitude generalized sharp slow activity, followed by diffuse attenuation. Metabolic testing was unrevealing. Brain MRI showed thinning of the corpus callosum with an absence of rostrum...
June 12, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
Tingsong Li, Min Cheng, Juan Wang, Siqi Hong, Mei Li, Shuang Liao, Lingling Xie, Yajun Qin, Li Jiang
OBJECTIVE: To detect syntaxin-binding protein 1 (STXBP1) mutations in Chinese patients with early onset epileptic encephalopathy (EOEE) of unknown etiology. METHODS: Targeted next-generation sequencing was used to identify STXBP1 mutations in 143 Chinese patients with EOEE of unknown etiology. A filtering process was applied to prioritize rare variants of potential functional significance. Then Sanger sequencing was employed to validate the parental origin of the variants...
June 13, 2018: Genes, Brain, and Behavior
Ping Qian, Xiaoling Yang, Xiaojing Xu, Xiaoyan Liu, Yuehua Zhang, Zhixian Yang
OBJECTIVE: To detect potential mutations of the glutamate receptor subunit (GRIN2A) gene and delineate the clinical-genetic characteristics of patients with epilepsy-aphasia spectrum (EAS) disorders. METHODS: One hundred twenty two patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS), benign childhood epilepsy with centrotemporal spikes (BECT) and BECT variants were recruited. Potential mutations of the GRIN2A gene were screened with Sanger sequencing...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Na He, Zhi-Jian Lin, Jie Wang, Feng Wei, Heng Meng, Xiao-Rong Liu, Qian Chen, Tao Su, Yi-Wu Shi, Yong-Hong Yi, Wei-Ping Liao
Epileptic encephalopathies comprise a group of catastrophic epilepsies with heterogeneous genetic etiology. Although next-generation sequencing techniques can reveal a number of de novo variants in epileptic encephalopathies, evaluating the pathogenicity of these variants can be challenging. Determining the pathogenic potential of genes in epileptic encephalopathies is critical before evaluating the pathogenicity of variants identified in an individual. We reviewed de novo variants in epileptic encephalopathies, including their genotypes and functional consequences...
June 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Afnan Alhakeem, Faisal Alshibani, Brahim Tabarki
INTRODUCTION: SLC13A5-related epileptic encephalopathy is a recently described autosomal recessive disorder that is characterized by infantile epilepsy and developmental delay. Seizures are markedly drug resistant and often induced by fever; they mainly occur in clusters, sometimes evolving into status epilepticus. METHODS AND RESULTS: We report the use of stiripentol as an adjunctive therapy in three siblings with drug-resistant SLC13A5-related epilepsy. The three patients showed remarkable improvement in the severity and frequency of seizures, status epilepticus, emergency department visits, and alertness...
June 9, 2018: Brain & Development
L Y Liu, L P Zou, J Wang
No abstract text is available yet for this article.
June 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Seda Salar, Solomon L Moshé, Aristea S Galanopoulou
West syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS...
June 2018: Epilepsia Open
E Fernandez-Alvarez
Thanks to the application of modern techniques such as next-generation sequencing in the study of apparently non-inherited encephalopathies it has become possible to describe de novo pathogenic mutations in unsuspected genes and to define the phenotypes of these mutations. Interestingly, in most cases, their clinical signs and symptoms show a spectrum in which epileptic encephalopathy, neurodevelopmental disorder and hyperkinetic abnormal movement disorders overlap. Their pathophysiology is located in synapses (synaptopathies)...
June 5, 2018: Revista de Neurologia
Samra Kadić-Vukas, Mirsada Hodžić, Lejla Tandir-Lihić, Lejla Hrvat, Azra Kožo-Kajmaković, Nina Kuzmanović, Haris Vukas
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiological syndrome with seizures, altered consciousness, visual disturbances and headache among other symptoms. Hinchey et al. first described Pres in 1996, with two other case series published shortly after. CASE REPORT: A 23-year-old women patient was emergency sent from General Hospital Tešanj due to a crisis of consciousness and repeated epileptic seizures. The patient had a second birth before 10 days (postpartum cesarean) in general endotracheal anaesthesia (two cesarean-born babies)...
May 20, 2018: Open Access Macedonian Journal of Medical Sciences
Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen, Zongbo Chen
BACKGROUND: The link between the protocadherin-19 (PCDH19) gene and epilepsy suggests that an unusual form of X-linked inheritance affects females but is transmitted through asymptomatic males. Individuals with epilepsy associated with mutations in the PCDH19 gene display generalized or focal seizures with or without fever sensitivity. The clinical manifestation of the condition ranges from mild to severe, resulting in intellectual disability and behavioural disturbance. In the present study, we assessed mutations in the PCDH19 gene and the clinical features of a group of Chinese patients with early infantile epileptic encephalopathy and aimed to provide further insight into the understanding of epilepsy and mental retardation limited to females (EFMR; MIM 300088)...
June 4, 2018: BMC Medical Genetics
I V Anisimova, E L Dadali, F A Konovalov, I A Akimova
AIM: To determine clinical and genetic characteristics of patients with non-syndromic mental retardation (NMR), type 20 with autosomal dominant type of inheritance (OMIM: 613443). MATERIAL AND METHODS: Fourteen patients were studied including four patients with mutations in the MEF2C gene revealed by exome sequencing. Three of the four mutations in the gene were found for the first time. RESULTS: Based on a comparative analysis of the clinical manifestations of 4 observed patients and 9 patients with type 20 NMR described in the literature, the authors determined common clinical characteristics of this syndrome...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Pauline Marzin, Cyril Mignot, Nathalie Dorison, Louis Dufour, Dorothée Ville, Anna Kaminska, Eleni Panagiotakaki, Anne-Sophie Dienpendaele, Marie-José Penniello, Marie-Christine Nougues, Boris Keren, Christel Depienne, Caroline Nava, Mathieu Milh, Laurent Villard, Christian Richelme, Clotilde Rivier, Sandra Whalen, Delphine Heron, Gaëtan Lesca, Diane Doummar
OBJECTIVE: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next generation sequencing allowed the description of other phenotypes, including early-onset epileptic encephalopathy in two patients. We report on three more patients carrying ATP1A3 mutations with a close phenotype and discuss the relationship of this phenotype to alternating hemiplegia of childhood...
May 31, 2018: Brain & Development
Kavitha Kothur, Katherine Holman, Elizabeth Farnsworth, Gladys Ho, Michelle Lorentzos, Christopher Troedson, Sachin Gupta, Richard Webster, Peter G Procopis, Manoj P Menezes, Jayne Antony, Simone Ardern-Holmes, Russell C Dale, John Christodoulou, Deepak Gill, Bruce Bennetts
PURPOSE: To report our institutional experience of targeted massively parallel sequencing (MPS) testing in children with epilepsy. METHOD: We retrospectively analysed the yield of targeted epileptic encephalopathy (EE) panel of 71 known EE genes in patients with epilepsy of unknown cause, who underwent clinical triage by a group of neurologists prior to the testing. We compared cost of the EE panel approach compared to traditional evaluation in patients with identified pathogenic variants...
May 28, 2018: Seizure: the Journal of the British Epilepsy Association
Raman Kumar, Alison Gardner, Claire C Homan, Evelyn Douglas, Heather Mefford, Dagmar Wieczorek, Hermann-Josef Lüdecke, Zornitza Stark, Simon Sadedin, Catherine Bearce Nowak, Jessica Douglas, Gretchen Parsons, Paul Mark, Lourdes Loidi, Gail E Herman, Theresa Mihalic Mosher, Meredith K Gillespie, Lauren Brady, Mark Tarnopolsky, Irene Madrigal, Jesús Eiris, Laura Domènech Salgado, Raquel Rabionet, Tim M Strom, Naoko Ishihara, Hidehito Inagaki, Hiroki Kurahashi, Tracy Dudding-Byth, Elizabeth E Palmer, Michael Field, Jozef Gecz
Highly conserved TREX-mediated mRNA export is emerging as a key pathway in neuronal development and differentiation. TREX subunit variants cause neurodevelopmental disorders (NDDs) by interfering with mRNA export from the cell nucleus to the cytoplasm. Previously we implicated four missense variants in the X-linked THOC2 gene in intellectual disability (ID). We now report an additional six affected individuals from five unrelated families with two de novo and three maternally-inherited pathogenic or likely pathogenic variants in THOC2 extending the genotypic and phenotypic spectrum...
May 31, 2018: Human Mutation
Géza Berecki, Katherine B Howell, Yadeesha H Deerasooriya, Maria Roberta Cilio, Megan K Oliva, David Kaplan, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou
De novo variants in SCN2A developmental and epileptic encephalopathy (DEE) show distinctive genotype-phenotype correlations. The two most recurrent SCN2A variants in DEE, R1882Q and R853Q, are associated with different ages and seizure types at onset. R1882Q presents on day 1 of life with focal seizures, while infantile spasms is the dominant seizure type seen in R853Q cases, presenting at a median age of 8 months. Voltage clamp, which characterizes the functional properties of ion channels, predicted gain-of-function for R1882Q and loss-of-function for R853Q...
May 29, 2018: Proceedings of the National Academy of Sciences of the United States of America
Jessika Johannsen, Fanny Kortüm, Georg Rosenberger, Kristin Bokelmann, Markus A Schirmer, Jonas Denecke, René Santer
The human WWOX (WW domain-containing oxidoreductase) gene, originally known as a tumor suppressor gene, has been shown to be important for brain function and development. In recent years, mutations in WWOX have been associated with a wide phenotypic spectrum of autosomal recessively inherited neurodevelopmental disorders. Whole exome sequencing was completed followed by Sanger sequencing to verify segregation of the identified variants. Functional WWOX analysis was performed in fibroblasts of one patient. Transcription and translation were assessed by quantitative real-time PCR and Western blotting...
May 28, 2018: Neurogenetics
Alessandra Morano, Jinane Fattouch, Mariarita Albini, Sara Casciato, Martina Fanella, Luca Manfredi Basili, Alessandro Viganò, Mario Manfredi, Anna Teresa Giallonardo, Carlo Di Bonaventura
Perampanel (PER) is a selective non-competitive α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor antagonist, licensed as adjunctive therapy in focal epilepsy and primary generalized tonic-clonic seizures (pGTCSs). We performed a retrospective study on highly refractory adult patients taking PER, with 1-year follow-up. Retention rate represented the primary outcome of our work; seizure frequency reduction (≥50%), "switch rate" and proportion of adverse events (AEs) were evaluated as secondary endpoints...
July 15, 2018: Journal of the Neurological Sciences
Maria Barington, Lotte Risom, Jakob Ek, Peter Uldall, Elsebet Ostergaard
In most patients with intellectual disability (ID), the etiology is unknown, but lately several de novo variants have been associated with ID. One of the involved genes, CUX2, has twice been reported to be affected by a de novo variant c.1768G>A; p.(Glu590Lys) in patients with ID or epileptic encephalopathy. CUX2 is expressed primarily in nervous tissues where it may act as a transcription factor involved in neural specification. Here we describe a third case who was diagnosed with epilepsy including general and myoclonic seizures, moderate to severe cognitive disability, and infantile autism...
May 24, 2018: European Journal of Human Genetics: EJHG
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