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Epileptic encephalopathies

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https://www.readbyqxmd.com/read/29053855/rare-gabra3-variants-are-associated-with-epileptic-seizures-encephalopathy-and-dysmorphic-features
#1
Cristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, Agnieszka Charzewska, Julian Schubert, Tally Lerman-Sagie, Hester Y Kroes, Renske Oegema, Monica Traverso, Nicola Specchio, Maria Lassota, Jamel Chelly, Odeya Bennett-Back, Nirit Carmi, Tal Koffler-Brill, Michele Iacomino, Marina Trivisano, Giuseppe Capovilla, Pasquale Striano, Magdalena Nawara, Sylwia Rzonca, Ute Fischer, Melanie Bienek, Corinna Jensen, Hao Hu, Holger Thiele, Janine Altmüller, Roland Krause, Patrick May, Felicitas Becker, Rudi Balling, Saskia Biskup, Stefan A Haas, Peter Nürnberg, Koen L I van Gassen, Holger Lerche, Federico Zara, Snezana Maljevic, Esther Leshinsky-Silver
Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from different mutations showing similar functional defects. Accordingly, several genes coding for GABAA receptor subunits have been linked to a spectrum of benign to severe epileptic disorders and it was shown that a loss of function presents the major correlated pathomechanism...
October 7, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#2
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050392/clinical-spectrum-and-genotype-phenotype-associations-of-kcna2-related-encephalopathies
#3
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W Klee, Brendan C Lanpher, Ralitza H Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen Gorman, Mary D King, Nicholas M Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, Jose M Serratosa, Beatriz G Giraldez, Ingo Helbig, Eric Marsh, Margaret O'Brien, Christina A Bergqvist, Adrian Binelli, Brenda Porter, Eduardo Zaeyen, Dafne D Horovitz, Markus Wolff, Dragan Marjanovic, Hande S Caglayan, Mutluay Arslan, Sergio D J Pena, Sanjay M Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R Lemke, Rikke S Møller, Holger Lerche, Guido Rubboli
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29040524/potentiation-of-excitatory-synaptic-transmission-ameliorates-aggression-in-mice-with-stxbp1-haploinsufficiency
#4
Hiroyuki Miyamoto, Atsushi Shimohata, Manabu Abe, Teruo Abe, Emi Mazaki, Kenji Amano, Toshimitsu Suzuki, Tetsuya Tatsukawa, Shigeyoshi Itohara, Kenji Sakimura, Kazuhiro Yamakawa
Genetic studies point to a major role of de novo mutations in neurodevelopmental disorders of intellectual disability, autism spectrum disorders, and epileptic encephalopathy. The STXBP1 gene encodes the syntaxin-binding protein 1 (Munc18-1) that critically controls synaptic vesicle exocytosis and synaptic transmission. This gene harbors a high frequency of de novo mutations, which may play roles in these neurodevelopmental disorders. However, the system and behavioral-level pathophysiological changes caused by these genetic defects remain poorly understood...
October 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29037447/a-quinidine-non-responsive-novel-kcnt1-mutation-in-an-indian-infant-with-epilepsy-of-infancy-with-migrating-focal-seizures
#5
Priyanka Madaan, Prashant Jauhari, Aparajita Gupta, Biswaroop Chakrabarty, Sheffali Gulati
Epilepsy of infancy with migrating focal seizures {a.k.a malignant migrating partial seizures of infancy (MMPSI)} is an uncommon epileptic encephalopathy with a poor prognosis. Migrating focal seizures with autonomic features, developmental stagnation and refractoriness to treatment are its key features. It is caused by genetic defects in various ion channels, most common being sodium activated potassium channel (KCNT1), found in up to 50% of cases. With advent of genetic diagnosis and precision medicine, many targeted therapies have been identified...
October 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/29023665/clinician-s-guide-to-genes-associated-with-rett-like-phenotypes-investigation-of-a-danish-cohort-and-review-of-the-literature
#6
REVIEW
Bitten Schönewolf-Greulich, Anne-Marie Bisgaard, Rikke S Møller, Morten Dunø, Karen Brøndum-Nielsen, Simran Kaur, Nicole J Van Bergen, Sebastian Lunke, Stefanie Eggers, Cathrine Jespersgaard, John Christodoulou, Zeynep Tümer
The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Rett-like refers to phenotypes with distinct overlapping features of Rett syndrome where the clinical criteria are not completely fulfilled. In this paper we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encephalopathies for example due to STXBP1 variants...
October 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28985901/systemic-manifestations-in-pyridox-am-ine-5-phosphate-oxidase-deficiency
#7
Réjean M Guerriero, Archana A Patel, Brian Walsh, Fiona M Baumer, Ankoor S Shah, Jurriaan M Peters, Lance H Rodan, Pankaj B Agrawal, Phillip L Pearl, Masanori Takeoka
OBJECTIVE: Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5'-phosphate oxidase and serves as a cofactor in nearly 200 reactions in the central nervous system. Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic encephalopathy treatable with P5P or in some cases, pyridoxine. Following identification of retinopathy in a patient with pyridox(am)ine 5'-phosphate oxidase deficiency that was reversible with P5P therapy, we describe the systemic manifestations of pyridox(am)ine 5'-phosphate oxidase deficiency...
June 3, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28971703/stxbp1-as-a-therapeutic-target-for-epileptic-encephalopathy
#8
Hannah Stamberger, Sarah Weckhuysen, Peter De Jonghe
STXBP1 is an essential protein for presynaptic vesicle release. Mutations in STXBP1 have been associated with a series of (epileptic) neurodevelopmental disorders collectively referred to as STXBP1-encephalopathy (STXBP1-E). In this review we hypothesize about the potential of STXBP1 as a therapeutic target in the field of epileptic encephalopathies. Areas covered: A state of the art overview on current understanding of the pathophysiologic mechanism underlying STXBP1-E is presented. Possibilities of different treatment modalities are discussed including unbiased compound screening, specific protein-protein interaction inhibition and gene therapy, consisting either of gene suppletion or upregulation of gene expression...
October 5, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28967461/clinical-manifestations-associated-with-the-n-terminal-acetyltransferase-naa10-gene-mutation-in-a-girl-ogden-syndrome
#9
Mandeep Sidhu, Lauren Brady, Mark Tarnopolsky, Gabriel M Ronen
BACKGROUND: Ogden syndrome is a rare X-linked disorder caused by pathogenic variants in the NAA10 gene. This syndrome, reported in just over 20 children, has been associated with dysmorphic features, failure to thrive, developmental impairments, hypotonia, and cardiac arrhythmias. PATIENT DESCRIPTION: We describe a 14-year-old girl who presented in infancy with hypotonia, global developmental delay, and dysmorphic features. She later developed autism spectrum disorder, epileptic encephalopathy, extrapyramidal signs, early morning lethargy with hypersomnolence, and hypertension with left ventricular hypertrophy...
July 19, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28965491/compound-heterozygous-mutations-in-uba5-causing-early-onset-epileptic-encephalopathy-in-two-sisters
#10
Gudny A Arnadottir, Brynjar O Jensson, Sigurdur E Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P Kristjansson, Stefania Benonisdottir, Sigurjon A Gudjonsson, Gisli Masson, Gudmundur A Thorisson, Jona Saemundsdottir, Olafur Th Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Kari Stefansson
BACKGROUND: Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic encephalopathies, including UBA5 in which biallelic mutations were first described as pathogenic in 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Muona M et al., Am J Hum Genet 99(3):683-694, 2016). UBA5 encodes an activating enzyme for a post-translational modification mechanism known as ufmylation, and is the first gene from the ufmylation pathway that is linked to disease...
October 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28944139/a-novel-cask-mutation-identified-in-siblings-exhibiting-developmental-disorders-with-without-microcephaly
#11
Toshiyuki Seto, Takashi Hamazaki, Satsuki Nishigaki, Satoshi Kudo, Haruo Shintaku, Yumiko Ondo, Keiko Shimojima, Toshiyuki Yamamoto
The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). Next generation sequencing was performed to elucidate genetic causes in siblings exhibiting developmental disorders, and a novel CASK mutation, c.1424G>T (p.Ser475Ile), was detected in a male patient with ID, ASD, and microcephaly...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28936822/-posterior-reversible-encephalopathy-syndrome-triggerred-by-alcohol-withdrawal
#12
Tuğçe Mengi, Yaprak Seçil, Aysel Çoban, Yeşim Beckmann
INTRODUCTION: Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological entity characterized by headache, altered mental status, epileptic seizures, visual disturbances and typically transient changes in posterior cerebral circulation areas. In this article, we present a case of alcohol withdrawal accompanied by PRES. CASE PRESENTATION: A 53-year-old male patient presented to the emergency department with visual hallucinations and meaningless speech...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28936771/functional-investigation-of-a-grin2a-variant-associated-with-rolandic-epilepsy
#13
Xing-Xing Xu, Xiao-Rong Liu, Cui-Ying Fan, Jin-Xing Lai, Yi-Wu Shi, Wei Yang, Tao Su, Jun-Yu Xu, Jian-Hong Luo, Wei-Ping Liao
N-methyl-D-aspartate receptors (NMDARs), a subtype of glutamate-gated ion channels, play a central role in epileptogenesis. Recent studies have identified an increasing number of GRIN2A (a gene encoding the NMDAR GluN2A subunit) mutations in patients with epilepsy. Phenotypes of GRIN2A mutations include epilepsy-aphasia disorders and other epileptic encephalopathies, which pose challenges in clinical treatment. Here we identified a heterozygous GRIN2A mutation (c.1341T>A, p.N447K) from a boy with Rolandic epilepsy by whole-exome sequencing...
September 21, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28931644/ufm1-founder-mutation-in-the-roma-population-causes-recessive-variant-of-h-abc
#14
Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Judy Liu, Adeline Vanderver, Julian Curiel, Claudia M Persoon, Daria Diodato, Lorenzo Pinelli, Nathalie L van der Meij, Barbara Plecko, Susan Blaser, Nicole I Wolf, Quinten Waisfisz, Truus E M Abbink, Marjo S van der Knaap
OBJECTIVE: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations. METHODS: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman assay for population screening. We developed a luciferase reporter construct to investigate the effect of the promoter mutation on expression. RESULTS: Sixteen patients from 14 families from different countries fulfilling the MRI criteria for H-ABC exhibited a similar, severe clinical phenotype, including lack of development and a severe epileptic encephalopathy...
September 20, 2017: Neurology
https://www.readbyqxmd.com/read/28929921/clinical-implications-of-interictal-epileptiform-discharges-in-cognitive-functioning-in-cec-syndrome-with-evolution-into-epileptic-encephalopathy
#15
Paolo Bonanni, Susanna Negrin, Lisa Antoniazzi, Martina Da Rold, Franco Fabbro, Anna Serafini
In epileptic encephalopathies (EE), interictal epileptiform discharges (IEDs) contribute to cognitive impairment. The EE process has been studied in a patient affected by epilepsy with occipital calcification and celiac disease (CEC syndrome) by combining the administration of brain area stimulus specific (visual and auditory) reaction times (RT) during continuous EEG monitoring with the off-line reconstruction of auditory and visual evoked potentials (EP). Visual RT and VEP were abnormal only if recorded concomitantly to the IEDs...
September 20, 2017: Neurocase
https://www.readbyqxmd.com/read/28923014/scn8a-mutations-in-chinese-patients-with-early-onset-epileptic-encephalopathy-and-benign-infantile-seizures
#16
Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu
BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth...
September 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28905146/long-range-temporal-correlations-reflect-treatment-response-in-the-electroencephalogram-of-patients-with-infantile-spasms
#17
Rachel J Smith, Amanda Sugijoto, Neggy Rismanchi, Shaun A Hussain, Daniel W Shrey, Beth A Lopour
Infantile spasms syndrome is an epileptic encephalopathy in which prompt diagnosis and treatment initiation are critical to therapeutic response. Diagnosis of the disease heavily depends on the identification of characteristic electroencephalographic (EEG) patterns, including hypsarrhythmia. However, visual assessment of the presence and characteristics of hypsarrhythmia is challenging because multiple variants of the pattern exist, leading to poor inter-rater reliability. We investigated whether a quantitative measurement of the control of neural synchrony in the EEGs of infantile spasms patients could be used to reliably distinguish the presence of hypsarrhythmia and indicate successful treatment outcomes...
September 13, 2017: Brain Topography
https://www.readbyqxmd.com/read/28900819/a-homozygous-pigo-mutation-associated-with-severe-infantile-epileptic-encephalopathy-and-corpus-callosum-hypoplasia-but-normal-alkaline-phosphatase-levels
#18
Yoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, Yonatan Sapir, Luci Zalman, Ilana Chervinsky, Markus Schuelke, Rachel Straussberg, Ronen Spiegel
We describe two sisters from a consanguineous Arab family with global developmental delay, dystrophy, axial hypotonia, epileptic encephalopathy dominated by intractable complex partial seizures that were resistant to various anti-epileptic treatments. Dysmorphic features comprised low set ears, hypertelorism, upslanting palpebral fissures, a broad nasal bridge, and blue sclera with elongated eyelashes. Brain MRI in both children showed a corpus callosum hypoplasia that was evident already in utero and evolving cortical atrophy...
September 13, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28899818/familial-9q33q34-microduplication-in-siblings-with-developmental-disorders-and-acrocephaly
#19
Keiko Shimojima, Nobuhiko Okamoto, Himanshu Goel, Yumiko Ondo, Toshiyuki Yamamoto
Because several genes responsible for epileptic encephalopathy are located on the 9q33q34 region, patients with chromosomal deletions of this region often show intractable epilepsy and neurodevelopmental disability. Contrary to these findings, chromosomal duplications of this region have never been reported previously. We identified a first case of 9q33q34 microduplications in siblings associated with developmental disorders and macrocephaly. Their mother was a mosaic carrier of this duplication. Duplicated regions involved STXBP1; the gene related to epileptic encephalopathy...
September 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28899008/phenotypic-analysis-of-303-multiplex-families-with-common-epilepsies
#20
MULTICENTER STUDY
(no author information available yet)
Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses...
August 1, 2017: Brain: a Journal of Neurology
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