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early infantile epileptic encephalopathy

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https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#1
REVIEW
Piero Pavone, Giovanni Corsello, Martino Ruggieri, Silvia Marino, Simona Marino, Raffaele Falsaperla
At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29758257/a-mechanistic-review-on-gnao1-associated-movement-disorder
#2
REVIEW
Huijie Feng, Suad Khalil, Richard R Neubig, Christos Sidiropoulos
Mutations in the GNAO1 gene cause a complex constellation of neurological disorders including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gαo , the α subunit of Go , a member of the Gi/o family of heterotrimeric G protein signal transducers. Go is the most abundant membrane protein in the mammalian central nervous system and plays major roles in synaptic neurotransmission and neurodevelopment. GNAO1 mutations were first reported in early infantile epileptic encephalopathy 17 (EIEE17) but are also associated with a more common syndrome termed neurodevelopmental disorder with involuntary movements (NEDIM)...
May 11, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29740331/voltage-gated-sodium-channel-%C3%AE-1-%C3%AE-1b-subunits-regulate-cardiac-physiology-and-pathophysiology
#3
REVIEW
Nnamdi Edokobi, Lori L Isom
Cardiac myocyte contraction is initiated by a set of intricately orchestrated electrical impulses, collectively known as action potentials (APs). Voltage-gated sodium channels (NaV s) are responsible for the upstroke and propagation of APs in excitable cells, including cardiomyocytes. NaV s consist of a single, pore-forming α subunit and two different β subunits. The β subunits are multifunctional cell adhesion molecules and channel modulators that have cell type and subcellular domain specific functional effects...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29726066/partial-loss-of-function-of-sodium-channel-scn8a-in-familial-isolated-myoclonus
#4
Jacy L Wagnon, Niccolò E Mencacci, Bryan S Barker, Eric R Wenger, Kailash P Bhatia, Bettina Balint, Miryam Carecchio, Nicholas W Wood, Manoj K Patel, Miriam H Meisler
Variants in the neuronal sodium channel gene SCN8A have been implicated in several neurological disorders. Early infantile epileptic encephalopathy type 13 results from de novo gain-of-function mutations that alter the biophysical properties of the channel. Complete loss-of-function variants of SCN8A have been identified in cases of isolated intellectual disability. We now report a novel heterozygous SCN8A variant, p.Pro1719Arg in a small pedigree with five family members affected with autosomal dominant upper limb isolated myoclonus without seizures or cognitive impairment...
May 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29713355/epilepsy-syndromes-during-the-first-year-of-life-and-the-usefulness-of-an-epilepsy-gene-panel
#5
REVIEW
Eun Hye Lee
Recent advances in genetics have determined that a number of epilepsy syndromes that occur in the first year of life are associated with genetic etiologies. These syndromes range from benign familial epilepsy syndromes to early-onset epileptic encephalopathies that lead to poor prognoses and severe psychomotor retardation. An early genetic diagnosis can save time and overall cost by reducing the amount of time and resources expended to reach a diagnosis. Furthermore, a genetic diagnosis can provide accurate prognostic information and, in certain cases, enable targeted therapy...
April 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29707261/rapid-clinical-diagnostic-variant-investigation-of-genomic-patient-sequencing-data-with-iobio-web-tools
#6
Alistair Ward, Mary A Karren, Tonya Di Sera, Chase Miller, Matt Velinder, Yi Qiao, Francis M Filloux, Betsy Ostrander, Russell Butterfield, Joshua L Bonkowsky, Willard Dere, Gabor T Marth
Introduction: Computational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming. Methods: We describe the use of iobio , a web-based tool suite for intuitive, real-time genome diagnostic analyses. Results: We used iobio to identify the disease-causing variant in a patient with early infantile epileptic encephalopathy with prior nondiagnostic genetic testing. Conclusions: Iobio tools can be used by clinicians to rapidly identify disease-causing variants from genomic patient sequencing data...
December 2017: Journal of Clinical and Translational Science
https://www.readbyqxmd.com/read/29699863/two-japanese-cases-of-epileptic-encephalopathy-associated-with-an-fgf12-mutation
#7
Ryo Takeguchi, Kazuhiro Haginoya, Yuri Uchiyama, Atsushi Fujita, Michiaki Nagura, Eri Takeshita, Takehiko Inui, Yukimune Okubo, Ryo Sato, Takuya Miyabayashi, Noriko Togashi, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Masayuki Sasaki
A heterozygous mutation in the fibroblast growth factor 12 (FGF12) gene, which elevates the voltage dependence of neuronal sodium channel fast inactivation, was recently identified in some patients with epileptic encephalopathy. Here we report 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). These 2 patients had an identical heterozygous missense mutation [c.341G>A:p.(Arg114His)] in FGF12 , which was identified with whole-exome sequencing...
April 23, 2018: Brain & Development
https://www.readbyqxmd.com/read/29687029/de-novo-kcnq2-mutation-in-one-case-of-epilepsy-of-infancy-with-migrating-focal-seizures-that-evolved-to-infantile-spasms
#8
Haolin Duan, Jing Peng, Miriam Kessi, Fei Yin
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29681092/lipt1-deficiency-presenting-as-early-infantile-epileptic-encephalopathy-leigh-disease-and-secondary-pyruvate-dehydrogenase-complex-deficiency
#9
Robert C Stowe, Qin Sun, Sarah H Elsea, Fernando Scaglia
Lipoic acid is an essential cofactor for the mitochondrial 2-ketoacid dehydrogenase complexes and the glycine cleavage system. Lipoyltransferase 1 catalyzes the covalent attachment of lipoate to these enzyme systems. Pathogenic variants in LIPT1 gene have recently been described in four patients from three families, commonly presenting with severe lactic acidosis resulting in neonatal death and/or poor neurocognitive outcomes. We report a 2-month-old male with severe lactic acidosis, refractory status epilepticus, and brain imaging suggestive of Leigh disease...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29670486/utilizing-animal-models-of-infantile-spasms
#10
Chris G Dulla
Infantile spasms are a devastating epileptic encephalopathy characterized by early life spasms and later seizures. Clinical outcomes of infantile spasms are poor and therapeutic options are limited with significant adverse effects. Therefore, new strategies to treat infantile spasms are of the utmost importance. Animals models of infantile spasms are a critical component of developing new therapies. Here, we review current chronic animal models of infantile spasms and consider future advances that may help improve patient care, as well as our scientific understanding of this debilitating disease...
March 2018: Epilepsy Currents
https://www.readbyqxmd.com/read/29667327/novel-west-syndrome-candidate-genes-in-a-chinese-cohort
#11
Jing Peng, Ying Wang, Fang He, Chen Chen, Li-Wen Wu, Li-Fen Yang, Yu-Ping Ma, Wen Zhang, Zi-Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang
AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on electroencephalography. Genetic defects play a critical role in the pathology of WS, and 54 EIEE genes have been identified till date. This study was designed to uncover new candidate genes for West syndrome. METHODS: In this study, we recruited 56 Chinese families with WS of unknown etiology...
April 17, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29656858/a-recurrent-de-novo-pacs2-heterozygous-missense-variant-causes-neonatal-onset-developmental-epileptic-encephalopathy-facial-dysmorphism-and-cerebellar-dysgenesis
#12
Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Paul A van der Zwaag, Emilia K Bijlsma, Bryan L Krock, E Backer, Erik-Jan Kamsteeg, Margje Sinnema, Margot R F Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J Lunsing, Lydie Burglen, Gaetan Lesca, Megan T Cho, Lacey A Smith, Beth R Sheidley, Christelle Moufawad El Achkar, Phillip L Pearl, Annapurna Poduri, Cara M Skraban, Jennifer Tarpinian, Addie I Nesbitt, Dietje E Fransen van de Putte, Claudia A L Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta De Bellescize, Laurent Guibaud, David A Sweetser, Jessica L Waxler, Klaas J Wierenga, Jean Donadieu, Vinodh Narayanan, Keri M Ramsey, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau-Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H Lelieveld, Janneke Schuurs-Hoeijmakers, Han G Brunner, Boris Keren, Julien Thevenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet
Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29616377/male-secretory-breast-cancer-case-in-a-6-year-old-boy-with-a-peculiar-gene-duplication-and-review-of-the-literature
#13
REVIEW
M Ghilli, M D Mariniello, C Scatena, L Dosa, G Traficante, A Tamburini, C Caporalini, A M Buccoliero, F Facchini, L Colizzi, A Quattrini Li, E Landucci, G Manca, A G Naccarato, D Caramella, C Favre, M Roncella
PURPOSE: Secretory breast cancer (SBC) is one of the rarest breast cancer (BC), representing the majority of BC in childhood. Nevertheless, it elicits a lot of interest both for the peculiar morphology and the characteristic genetic features. Currently, there is no consensus on optimal treatment strategy. Therefore, it is useful to report every case in order to establish treatment algorithms. METHODS: We describe the case of a 6-year-old boy diagnosed with a SBC, with peculiar genomic and immunohistochemical features...
April 3, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29588991/early-onset-epileptic-encephalopathy-and-severe-developmental-delay-in-an-association-with-de-novo-double-mutations-in-nf1-and-magel2
#14
Satoshi Akamine, Noriaki Sagata, Yasunari Sakai, Takahiro A Kato, Takeshi Nakahara, Yuki Matsushita, Osamu Togao, Akio Hiwatashi, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara, Akira Sawa, Shinichi Kano, Masutaka Furue, Shigenobu Kanba, Chad A Shaw, Shouichi Ohga
Advance in the exome-wide sequencing analysis contributes to identifying hundreds of genes that are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders. On the basis of massive sequencing data, functional interactions among different genes are suggested to explain the common molecular pathway underlying the pathogenic process of these disorders. However, the relevance of such interactions with the phenotypic severity or variety in an affected individual remains elusive. In this report, we present a 45-year-old woman with neurofibromatosis type 1 (NF1), infantile-onset epileptic encephalopathy, and severe developmental delay...
March 2018: Epilepsia Open
https://www.readbyqxmd.com/read/29588952/gene-panel-analysis-for-nonsyndromic-cryptogenic-neonatal-infantile-epileptic-encephalopathy
#15
Cheuk-Wing Fung, Anna Ka-Yee Kwong, Virginia Chun-Nei Wong
Objective: Epileptic encephalopathy (EE) is a heterogeneous condition associated with deteriorations of cognitive, sensory and/or motor functions as a consequence of epileptic activity. The phenomenon is the most common and severe in infancy and early childhood. Genetic-based diagnosis in EE patients is challenging owing to genetic and phenotypic heterogeneity of numerous monogenic disorders and the fact that thousands of genes are involved in neurodevelopment. Therefore, high-throughput next-generation sequencing (NGS) was used to investigate the genetic causes of non-syndromic cryptogenic neonatal/infantile EE (NIEE)...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29544889/a-novel-stxbp1-mutation-causes-typical-rett-syndrome-in-a-japanese-girl
#16
Kotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, Mayumi Matsufuji, Nozomi Sano, Tomoko Saikusa, Yukako Yae, Yushiro Yamashita, Takeshi Mizuguchi, Naomichi Matsumoto, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age...
March 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/29538625/protein-instability-haploinsufficiency-and-cortical-hyper-excitability-underlie-stxbp1-encephalopathy
#17
Jovana Kovacevic, Gregoire Maroteaux, Desiree Schut, Maarten Loos, Mohit Dubey, Julika Pitsch, Esther Remmelink, Bastijn Koopmans, James Crowley, L Niels Cornelisse, Patrick F Sullivan, Susanne Schoch, Ruud F Toonen, Oliver Stiedl, Matthijs Verhage
De novo heterozygous mutations in STXBP1/Munc18-1 cause early infantile epileptic encephalopathies (EIEE4, OMIM #612164) characterized by infantile epilepsy, developmental delay, intellectual disability, and can include autistic features. We characterized the cellular deficits for an allelic series of seven STXBP1 mutations and developed four mouse models that recapitulate the abnormal EEG activity and cognitive aspects of human STXBP1-encephalopathy. Disease-causing STXBP1 variants supported synaptic transmission to a variable extent on a null background, but had no effect when overexpressed on a heterozygous background...
May 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29466837/mutations-in-scn3a-cause-early-infantile-epileptic-encephalopathy
#18
Tariq Zaman, Ingo Helbig, Ivana Babić Božović, Suzanne D DeBrosse, A Christina Bergqvist, Kimberly Wallis, Livija Medne, Aleš Maver, Borut Peterlin, Katherine L Helbig, Xiaohong Zhang, Ethan M Goldberg
OBJECTIVE: Voltage-gated sodium (Na+ ) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in the nervous system. Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na+ channel pore-forming (α) subunits Nav1.1, 1.2, and 1.6, respectively, and SCN1B, encoding the accessory subunit β1 , are established causes of genetic epilepsies. SCN3A, encoding Nav1.3, is known to be highly expressed in brain, but has not previously been linked to early infantile epileptic encephalopathy...
April 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29444904/mutation-in-an-alternative-transcript-of-cdkl5-in-a-boy-with-early-onset-seizures
#19
Dale L Bodian, John M Schreiber, Thierry Vilboux, Alina Khromykh, Natalie S Hauser
Infantile-onset epilepsies are a set of severe, heterogeneous disorders for which clinical genetic testing yields causative mutations in ~20-50% of affected individuals. We report the case of a boy presenting with intractable seizures at 2 weeks of age, for whom gene panel testing was unrevealing. Research-based whole genome sequencing of the proband and four unaffected family members identified a de novo mutation, NM_001323289.1:c.2828_2829delGA in CDKL5, a gene associated with X-linked early infantile epileptic encephalopathy 2...
February 14, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29432985/a-relatively-mild-phenotype-associated-with-mutation-of-scn8a
#20
Irene Bagnasco, Patrizia Dassi, Roberta Blé, Piernanda Vigliano
Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay. Recently various authors have reported patients carrying autosomal dominant heterozygous SCN8A mutations and a milder phenotype expression. We discuss the case of a 6-year-old girl with a positive family history for epilepsy, early benign focal epilepsy, well controlled by Carbamazepine, upper limb tremor since birth, ataxia, slight motor delay and normal cognitive development...
March 2018: Seizure: the Journal of the British Epilepsy Association
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