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epileptic encephalopathy

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https://www.readbyqxmd.com/read/29466837/mutations-in-scn3a-cause-early-infantile-epileptic-encephalopathy
#1
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...
February 21, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29455050/targeted-gene-panel-and-genotype-phenotype-correlation-in-children-with-developmental-and-epileptic-encephalopathy
#2
Ara Ko, Song Ee Youn, Se Hee Kim, Joon Soo Lee, Sangwoo Kim, Jong Rak Choi, Heung Dong Kim, Seung-Tae Lee, Hoon-Chul Kang
OBJECTIVE: We performed targeted gene-panel sequencing for children with developmental and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype-phenotype correlations. METHODS: We assessed 278 children with DEE using a customized gene panel that included 172 genes, and extensively reviewed their clinical characteristics, including therapeutic efficacy, according to genotype. RESULTS: In 103 (37.1%) of the 278 patients with DEE, 35 different disease-causing monogenic mutations were identified...
February 12, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29453127/generation-of-d1-1-talen-isogenic-control-cell-line-from-dravet-syndrome-patient-ipscs-using-talen-mediated-editing-of-the-scn1a-gene
#3
Yasuyoshi Tanaka, Takefumi Sone, Norimichi Higurashi, Tetsushi Sakuma, Sadafumi Suzuki, Mitsuru Ishikawa, Takashi Yamamoto, Jun Mitsui, Hitomi Tsuji, Hideyuki Okano, Shinichi Hirose
Dravet syndrome (DS) is an infantile epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene encoding the α1 subunit of the voltage-gated sodium channel Nav 1.1. As an in vitro model of this disease, we previously generated an induced pluripotent stem cell (iPSC) line from a patient with DS carrying a c.4933C>T (p.R1645*) substitution in SCN1A. Here, we describe developing a genome-edited control cell line from this DS iPSC line by substituting the point mutation with the wild-type residue...
February 2, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29451698/the-ketogenic-diet-is-effective-for-refractory-epilepsy-associated-with-acquired-structural-epileptic-encephalopathy
#4
Mel Michel Villaluz, Lysa Boissé Lomax, Trupti Jadhav, J Helen Cross, Ingrid E Scheffer
AIM: Ketogenic diet therapies have proven efficacy for refractory epilepsy. There are many reports of their use in the genetic developmental and epileptic encephalopathies; however, little attention has been paid as to whether the diet is also effective in individuals with an acquired structural aetiology. We observed remarkable efficacy of the diet in two patients with hypoxic-ischaemic encephalopathy. We then analysed our cases with refractory structural epilepsies of acquired origin to characterize their response to the ketogenic diet...
February 16, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29444904/mutation-in-an-alternative-transcript-of-cdkl5-in-a-boy-with-early-onset-seizures
#5
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/29443785/can-endotracheal-intubation-be-the-first-step-in-management-of-nonconvulsive-status-epilepticus-a-case-report
#6
Saad Warraich, Abbas Ali, Atif Nizami, Moiz Bakhiet
RATIONALE: Nonconvulsive status epilepticus (NCSE) is prolonged seizure activity without motor manifestations. Clinically, there are certain examination findings, in addition to elements of history, that help differentiate it from other encephalopathies. When diagnosing NCSE, the physician faces significant difficulties due to inconsistent clinical presentation and somewhat nonspecific electroencephalogram (EEG) criteria. PATIENT CONCERNS: To highlight the problems faced when dealing with such a patient, a case of a 29-year-old male who presented with an altered state of consciousness is put forth for the reader...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29434700/distinct-magnetic-resonance-imaging-features-in-a-patient-with-novel-rars2-mutations-a-case-report-and-review-of-the-literature
#7
Jie Zhang, Zhongbin Zhang, Yao Zhang, Ye Wu
Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl-tRNA synthetase 2 (RARS2) gene. To the best of our knowledge, 23 cases with relatively complete clinical data have been reported thus far. In the present study, a case with PCH6 caused by novel RARS2 mutations is described, in which distinct magnetic resonance imaging (MRI) features were identified. In addition, 23 PCH6 cases found in the literature were reviewed. Early onset hypotonia (43...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29432985/a-relatively-mild-phenotype-associated-with-mutation-of-scn8a
#8
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...
February 7, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29432562/loss-of-function-and-gain-of-function-mutations-in-ppp3ca-cause-two-distinct-disorders
#9
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Nobuhiko Okamoto, Hirokazu Kurahashi, Nina Ekhilevitch, Masaaki Shiina, Gen Nishimura, Takashi Shibata, Muneaki Matsuo, Tae Ikeda, Kazuhiro Ogata, Naomi Tsuchida, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara, Hirotomo Saitsu, Naomichi Matsumoto
Calcineurin is a calcium (Ca2+)/calmodulin-regulated protein phosphatase that mediates Ca2+-dependent signal transduction. Here, we report six heterozygous mutations in a gene encoding the alpha isoform of the calcineurin catalytic subunit (PPP3CA). Notably, mutations were observed in different functional domains: in addition to three catalytic domain mutations, two missense mutations were found in the auto-inhibitory (AI) domain. One additional frameshift insertion that caused premature termination was also identified...
February 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29432242/epileptic-encephalopathies
#10
Shaun A Hussain
PURPOSE OF REVIEW: This article reviews the manifestations and treatment of the epileptic encephalopathies, which are a heterogeneous group of disorders characterized by both seizures and neurocognitive impairment. RECENT FINDINGS: Next-generation (exome- and genome-based) sequencing technologies are revolutionizing the identification of single-gene causes of epileptic encephalopathy but have only had a modest impact on patient-specific treatment decisions. The treatment of most forms of epileptic encephalopathy remains a particularly challenging endeavor, with therapeutic decisions chiefly driven by the electroclinical syndrome classification...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29429466/-recurrent-convulsion-and-pulmonary-infection-complicated-by-psychomotor-retardation-in-an-infant
#11
Juan Xiong, Jing Peng, Hao-Lin Duan, Chen Chen, Xiao-Le Wang, Shi-Meng Chen, Fei Yin
A 4-month-old girl developed convulsion in the neonatal period, which was focal motor seizures in the initial stage and later became spasm and tonic spasm. And the girl also had psychomotor retardation and recurrent pulmonary infection. Electroencephalography showed hypsarrhythmia, normal results were obtained from cranial magnetic resonance imaging, cerebrospinal fluid examination, and urine organic acid analysis, as well as the spectral analyses of blood ammonia, blood lactic acid, blood amino acids, and acylcarnitines...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29429461/-gene-mutations-in-unexplained-infantile-epileptic-encephalopathy-an-analysis-of-47-cases
#12
Chun-Miao Wei, Gui-Zhi Xia, Rong-Na Ren
OBJECTIVE: To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy (EE). METHODS: A total of 47 infants with unexplained infantile EE were enrolled, and next-generation sequencing was used to analyze gene mutations in these infants and their parents. RESULTS: Of all 47 infants, 23 were found to have gene mutations, among whom 13 had de novo mutations and 10 had heterozygous mutations inherited from their father or mother...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29426807/neonatal-epilepsy-genetics
#13
REVIEW
Erika J T Axeen, Heather E Olson
Neonatal epilepsy genetics is a rapidly expanding field with recent technological advances in genomics leading to an expanding list of genetic disorders associated with neonatal-onset epilepsy. The genetic causes of neonatal epilepsy can be grouped into the following categories: (i) malformations of cortical development, (ii) genetic-metabolic, (iii) genetic-vascular, (iv) genetic-syndromic, and (v) genetic-cellular. Clinically, epilepsy in the neonate shows phenotypic overlap with pathogenic variants in unrelated genes causing similar clinical presentation (locus heterogeneity) and variants in the same gene leading to a wide clinical spectrum ranging from benign familial neonatal seizures to more severe epileptic encephalopathies (variable expressivity)...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29422393/a-de-novo-gabra2-missense-mutation-in-severe-early-onset-epileptic-encephalopathy-with-a-choreiform-movement-disorder
#14
Naama Orenstein, Hadassa Goldberg-Stern, Rachel Straussberg, Lily Bazak, Monika Weisz Hubshman, Nesia Kropach, Oded Gilad, Oded Scheuerman, Yahav Dory, Dror Kraus, Shay Tzur, Nurit Magal, Yael Kilim, Vered Shkalim Zemer, Lina Basel-Salmon
BACKGROUND: Early-onset epileptic encephalopathy (EOEE) is a severe convulsive disorder with a poor developmental prognosis. Although it has been associated with mutations in a number of genes, the fact that there is a large proportion of patients who remain undiagnosed suggests that there are many more still-unknown genetic causes of EOEE. Achieving a genetic diagnosis is important for understanding the biological basis of the disease, with its implications for treatment and family planning...
December 30, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29408779/pathogenic-significance-of-scn1a-splicing-variants-causing-dravet-syndrome-improving-diagnosis-with-targeted-sequencing-for-variants-by-in-silico-analysis
#15
Nejat Mahdieh, Sepideh Mikaeeli, Reza Shervin Badv, Azadeh Gharehzadeh Shirazi, Majid Maleki, Bahareh Rabbani
OBJECTIVES: Genetic heterogeneity of epileptic encephalopathy (IEE) mandates the use of gene-panels for diagnosis. PATIENTS AND METHODS: A 36-gene-panel next-generation sequencing was applied for IEE in two Iranian families. A literature search was performed using keywords to identify reported splicing mutations in SCN1A and perform genotype-phenotype correlation. RESULTS: An update of splicing mutations revealed 147 variants with 65.75% of them de novo mutations...
January 31, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29406573/phenotypic-characterization-of-kctd3-related-developmental-epileptic-encephalopathy
#16
E A Faqeih, M Almannai, M M Saleh, A H AlWadie, M M Samman, F S Alkuraya
The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with two pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from four consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Posterior fossa abnormalities (ranging from Dandy-Walker malformation to isolated hypoplasia of the cerebellar vermis) were consistently observed in addition to other variable neuroradiological abnormalities such as hydrocephalus and abnormal brain myelination...
February 6, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29397573/mutations-in-the-ph-domain-of-dnm1-are-associated-with-a-nonepileptic-phenotype-characterized-by-developmental-delay-and-neurobehavioral-abnormalities
#17
Emily Brereton, Emily Fassi, Gabriel C Araujo, Jonathan Dodd, Aida Telegrafi, Sheel J Pathak, Marwan Shinawi
BACKGROUND: Dynamin 1 is a protein involved in the synaptic vesicle cycle, which facilitates the exocytosis of neurotransmitters necessary for normal signaling and development in the central nervous system. Pathogenic variants in DNM1 have been implicated in global developmental delay (DD), severe intellectual disability (ID), and notably, epileptic encephalopathy. All previously reported DNM1 pathogenic variants causing this severe phenotype occur in the GTPase and Middle domains of the dynamin 1 protein...
February 4, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29396846/multi-gene-panel-testing-improves-diagnosis-and-management-of-patients-with-hereditary-anemias
#18
Roberta Russo, Immacolata Andolfo, Francesco Manna, Antonella Gambale, Roberta Marra, Barbara Eleni Rosato, Paola Caforio, Valeria Pinto, Piero Pignataro, Kottayam Radhakrishnan, Sule Unal, Giovanna Tomaiuolo, Gian Luca Forni, Achille Iolascon
Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects, as hereditary spherocytosis and stomatocytosis; hemolytic anemias due to enzymatic defects. The study describes the diagnostic workflow for HA, based on the development of two consecutive versions of a targeted-NGS panel, including 34 and 71 genes, respectively...
February 3, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29395663/atp1a3-related-epileptic-encephalopathy-responding-to-ketogenic-diet
#19
Tommaso Schirinzi, Federica Graziola, Raffaella Cusmai, Lucia Fusco, Francesco Nicita, Mirella Elia, Lorena Travaglini, Enrico Bertini, Paolo Curatolo, Federico Vigevano, Alessandro Capuano
BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease caused by mutations in ATP1A3 gene codifying for alpha3 subunit of Na+-K+ ATPase pump. Repeated and transient attacks of hemiplegia, usually affecting one side of the body or the other, or both sides of the body at once, are the core features of AHC. Monocular nystagmus, other abnormalities in ocular movements, dystonic posturing and epilepsy are commonly associated to AHC. However, the spectrum of ATP1A3 related diseases is still expanding and new phenotypes have been reported...
January 26, 2018: Brain & Development
https://www.readbyqxmd.com/read/29395273/cannabidiol-in-patients-with-seizures-associated-with-lennox-gastaut-syndrome-gwpcare4-a-randomised-double-blind-placebo-controlled-phase-3-trial
#20
Elizabeth A Thiele, Eric D Marsh, Jacqueline A French, Maria Mazurkiewicz-Beldzinska, Selim R Benbadis, Charuta Joshi, Paul D Lyons, Adam Taylor, Claire Roberts, Kenneth Sommerville
BACKGROUND: Patients with Lennox-Gastaut syndrome, a rare, severe form of epileptic encephalopathy, are frequently treatment resistant to available medications. No controlled studies have investigated the use of cannabidiol for patients with seizures associated with Lennox-Gastaut syndrome. We therefore assessed the efficacy and safety of cannabidiol as an add-on anticonvulsant therapy in this population of patients. METHODS: In this randomised, double-blind, placebo-controlled trial done at 24 clinical sites in the USA, the Netherlands, and Poland, we investigated the efficacy of cannabidiol as add-on therapy for drop seizures in patients with treatment-resistant Lennox-Gastaut syndrome...
January 25, 2018: Lancet
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