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epileptic encephalopathy

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https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#1
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28711740/early-manifestations-of-epileptic-encephalopathy-brain-atrophy-and-elevation-of-serum-neuron-specific-enolase-in-a-boy-with-beta-propeller-protein-associated-neurodegeneration
#2
Kyoko Takano, Kazuya Goto, Mitsuo Motobayashi, Keiko Wakui, Rie Kawamura, Tomomi Yamaguchi, Yoshimitsu Fukushima, Tomoki Kosho
Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and developmental delay or intellectual disability until adolescence or early adulthood, followed by severe dystonia, parkinsonism, and progressive dementia. However, rare male patients have recently been reported with hemizygous germline mutations in WDR45 and severe clinical manifestations, such as epileptic encephalopathies...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28709814/the-therapeutic-implication-of-a-novel-scn2a-mutation-associated-early-onset-epileptic-encephalopathy-with-rett-like-features
#3
Jao-Shwann Liang, Li-Ju Lin, Ming-Tao Yang, Jinn-Shyan Wang, Jyh-Feng Lu
Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c...
July 11, 2017: Brain & Development
https://www.readbyqxmd.com/read/28703275/predictors-of-cognitive-function-in-patients-with-hypothalamic-hamartoma-following-stereotactic-radiofrequency-thermocoagulation-surgery
#4
Masaki Sonoda, Hiroshi Masuda, Hiroshi Shirozu, Yosuke Ito, Kohei Akazawa, Eishi Asano, Shigeki Kameyama
OBJECTIVE: To determine the predictors of cognitive function in patients with drug-resistant gelastic seizures (GS) related to hypothalamic hamartoma (HH) before and after stereotactic radiofrequency thermocoagulation surgery (SRT). METHODS: We studied 88 patients with HH who underwent SRT between October 1997 and December 2014. Patients received neuropsychological tests preoperatively and postoperatively. Based on the preoperative measures, patients were categorized as "high-functioning" (full-scale intelligence quotient [FSIQ] ≥70; n = 48) and "low-functioning" group (FSIQ <70; n = 40)...
July 13, 2017: Epilepsia
https://www.readbyqxmd.com/read/28702509/loss-of-function-variants-of-scn8a-in-intellectual-disability-without-seizures
#5
Jacy L Wagnon, Bryan S Barker, Matteo Ottolini, Young Park, Alicia Volkheimer, Purnima Valdez, Marielle E M Swinkels, Manoj K Patel, Miriam H Meisler
OBJECTIVE: To determine the functional effect of SCN8A missense mutations in 2 children with intellectual disability and developmental delay but no seizures. METHODS: Genomic DNA was analyzed by next-generation sequencing. SCN8A variants were introduced into the Nav1.6 complementary DNA by site-directed mutagenesis. Channel activity was measured electrophysiologically in transfected ND7/23 cells. The stability of the mutant channels was assessed by Western blot...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28697420/familial-early-infantile-epileptic-encephalopathy-and-cardiac-conduction-disorder-a-rare-cause-of-sudep-in-infancy
#6
Dilsad Turkdogan, Sunay Usluer, Figen Akalin, Umut Agyuz, Elif Sibel Aslan
No abstract text is available yet for this article.
June 28, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28687180/a-patient-with-early-myoclonic-encephalopathy-eme-with-a-de-novo-kcnq2-mutation
#7
Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, Akihiko Miyauchi, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata
BACKGROUND: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. CASE REPORT: A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation...
July 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28684954/missense-is-no-nonsense-for-epileptic-encephalopathies
#8
COMMENT
Antonella Pirone, Chris Dulla
No abstract text is available yet for this article.
May 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/28681755/dravet-syndrome-with-scn1b-gene-mutation-a-rare-entity
#9
Devdeep Mukherjee, Swapan Mukherjee, Prabal Niyogi, Manas Mahapatra
Early infantile epileptic encephalopathy has a grave outcome. Dravet syndrome (DS), characterized by early onset, refractory seizures, and intellectual deficit is one of the variants of the condition. SCN1B gene mutation is one of the lesser known variants of DS. Increased awareness of genetic analysis has increased the early diagnosis of DS for an early prognostication as well as genetic counselling of parents. We present the case of a 7-month old male child who started having recurrent febrile, and thereafter, afebrile seizures, following administration of a vaccination at 3 months...
July 2017: Neurology India
https://www.readbyqxmd.com/read/28676574/aberrant-sodium-channel-currents-and-hyperexcitability-of-medial-entorhinal-cortex-neurons-in-a-mouse-model-of-scn8a-encephalopathy
#10
Matteo Ottolini, Bryan S Barker, Ronald P Gaykema, Miriam H Meisler, Manoj K Patel
SCN8A encephalopathy, or early infantile epileptic encephalopathy 13 (EIEE13), is caused predominantly by de novo gain-of-function mutations in the voltage-gated sodium (Na) channel Nav1.6. Affected individuals suffer from refractory seizures, developmental delay, cognitive disability and elevated risk of sudden unexpected death in epilepsy (SUDEP). A knock-in mouse model carrying the patient mutation p.Asn1768Asp (N1768D) reproduces many features of the disorder including spontaneous seizures and SUDEP. We used the mouse model to examine the effects of the mutation on layer II stellate neurons of the medial entorhinal cortex (mEC), which transmit excitatory input to the hippocampus...
July 4, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28676440/severe-bone-loss-and-multiple-fractures-in-scn8a-related-epileptic-encephalopathy
#11
Tim Rolvien, Sebastian Butscheidt, Anke Jeschke, Axel Neu, Jonas Denecke, Christian Kubisch, Miriam H Meisler, Klaus Pueschel, Florian Barvencik, Timur Yorgan, Ralf Oheim, Thorsten Schinke, Michael Amling
Mutations in the SCN8A gene encoding the neuronal voltage-gated sodium channel Nav1.6 are known to be associated with epileptic encephalopathy type 13. We identified a novel de novo SCN8A mutation (p.Phe360Ala, c.1078_1079delTTinsGC, Exon 9) in a 6-year-old girl with epileptic encephalopathy accompanied by severe juvenile osteoporosis and multiple skeletal fractures, similar to three previous case reports. Skeletal assessment using dual energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT) and serum analyses revealed a combined trabecular and cortical bone loss syndrome with elevated bone resorption...
July 1, 2017: Bone
https://www.readbyqxmd.com/read/28674986/epileptic-encephalopathies-as-neurodegenerative-disorders
#12
Ingo Helbig, Markus von Deimling, Eric D Marsh
The epileptic encephalopathies are severe and often treatment-resistant conditions that are associated with a progressive disturbance of brain function, resulting in a broad range of neurological and non-neurological comorbidities. The concept of epileptic encephalopathies entails that the encephalopathy aspect of the overall condition is primarily driven by the epileptic activity of the disease, which often manifests as specific and pathological features on the electroencephalogram. Genetic factors in epileptic encephalopathies are increasingly recognized...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28673551/analyses-of-slc13a5-epilepsy-patients-reveal-perturbations-of-tca-cycle
#13
Matthew N Bainbridge, Erin Cooney, Marcus Miller, Adam D Kennedy, Jacob E Wulff, Taraka Donti, Shalini N Jhangiani, Richard A Gibbs, Sarah H Elsea, Brenda E Porter, Brett H Graham
OBJECTIVE: To interrogate the metabolic profile of five subjects from three families with rare, nonsense and missense mutations in SLC13A5 and Early Infantile Epileptic Encephalopathies (EIEE) characterized by severe, neonatal onset seizures, psychomotor retardation and global developmental delay. METHODS: Mass spectrometry of plasma, CSF and urine was used to identify consistently dysregulated analytes in our subjects. RESULTS: Distinctive elevations of citrate and dysregulation of citric acid cycle intermediates, supporting the hypothesis that loss of SLC13A5 function alters tricarboxylic acid cycle (TCA) metabolism and may disrupt metabolic compartmentation in the brain...
June 24, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28669405/loss-of-function-and-gain-of-function-mutations-in-kcnq5-cause-intellectual-disability-or-epileptic-encephalopathy
#14
Anna Lehman, Samrat Thouta, Grazia M S Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B McKenzie, Anita Datta, Mary B Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M Friedman, Matthew J Farrer, Michelle Demos, Sonal Desai, Thomas Claydon
KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely expressed in the brain and generates M-type current. Exome sequencing identified de novo heterozygous missense mutations in four probands with intellectual disability, abnormal neurological findings, and treatment-resistant epilepsy (in two of four). Comprehensive analysis of this potassium channel for the four variants expressed in frog oocytes revealed shifts in the voltage dependence of activation, including altered activation and deactivation kinetics...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28667181/dnm1-encephalopathy-a-new-disease-of-vesicle-fission
#15
Sarah von Spiczak, Katherine L Helbig, Deepali N Shinde, Robert Huether, Manuela Pendziwiat, Charles Lourenço, Mark E Nunes, Dean P Sarco, Richard A Kaplan, Dennis J Dlugos, Heidi Kirsch, Anne Slavotinek, Maria R Cilio, Mackenzie C Cervenka, Julie S Cohen, Rebecca McClellan, Ali Fatemi, Amy Yuen, Yoshimi Sagawa, Rebecca Littlejohn, Scott D McLean, Laura Hernandez-Hernandez, Bridget Maher, Rikke S Møller, Elizabeth Palmer, John A Lawson, Colleen A Campbell, Charuta N Joshi, Diana L Kolbe, Georgie Hollingsworth, Bernd A Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E Scheffer, Sérgio D J Pena, Sanjay M Sisodiya, Ingo Helbig
OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function...
June 30, 2017: Neurology
https://www.readbyqxmd.com/read/28666193/efficacy-of-adjunctive-vagus-nerve-stimulation-in-patients-with-dravet-syndrome-a-meta-analysis-of-68-patients
#16
REVIEW
Maxine Dibué-Adjei, Igor Fischer, Hans-Jakob Steiger, Marcel Alexander Kamp
RATIONALE: Dravet Syndrome (DS) is a severe epileptic encephalopathy of childhood involving intractable seizures, recurrent status epilepticus and cognitive decline. Because DS is a rare disease, available data is limited and evidence-based treatment guidelines are lacking. Vagus nerve stimulation (VNS) is an established neurostimulation treatment for intractable epilepsy, however little evidence is published on its efficacy in patients with DS. METHODS: We performed a meta-analysis of all peer-reviewed English language studies reporting seizure outcomes of patients with DS treated with adjunctive vagus nerve stimulation...
June 17, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28663785/case-report-novel-mutations-in-tbc1d24-are-associated-with-autosomal-dominant-tonic-clonic-and-myoclonic-epilepsy-and-recessive-parkinsonism-psychosis-and-intellectual-disability
#17
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M Claasen, Sampathkumar Rangasamy, Matthew J Huentelman, David W Craig, Philippe M Campeau, Vinodh Narayanan, Isabelle Schrauwen
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a family segregating autosomal dominant epilepsy, and a 37-year-old Caucasian female with a severe neurological phenotype including epilepsy, Parkinsonism, psychosis, visual and auditory hallucinations, gait ataxia and intellectual disability. Whole exome sequencing revealed two missense mutations in the TBC1D24 gene segregating within this family (c...
2017: F1000Research
https://www.readbyqxmd.com/read/28649286/autism-spectrum-disorder-and-epileptic-encephalopathy-common-causes-many-questions
#18
REVIEW
Siddharth Srivastava, Mustafa Sahin
Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that are the hallmarks of autism spectrum disorder (ASD). With the advent of next-generation sequencing, the genetic landscape of epileptic encephalopathies is growing and demonstrates overlap with genes separately implicated in ASD. However, many questions remain about this connection, including whether epileptiform activity itself contributes to the development of ASD symptomatology...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28620281/inhibition-of-the-mitochondrial-glutamate-carrier-slc25a22-in-astrocytes-leads-to-intracellular-glutamate-accumulation
#19
Emmanuelle Goubert, Yanina Mircheva, Francesco M Lasorsa, Christophe Melon, Emanuela Profilo, Julie Sutera, Hélène Becq, Ferdinando Palmieri, Luigi Palmieri, Laurent Aniksztejn, Florence Molinari
The solute carrier family 25 (SLC25) drives the import of a large diversity of metabolites into mitochondria, a key cellular structure involved in many metabolic functions. Mutations of the mitochondrial glutamate carrier SLC25A22 (also named GC1) have been identified in early epileptic encephalopathy (EEE) and migrating partial seizures in infancy (MPSI) but the pathophysiological mechanism of GC1 deficiency is still unknown, hampered by the absence of an in vivo model. This carrier is mainly expressed in astrocytes and is the principal gate for glutamate entry into mitochondria...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28608234/genomics-guided-precise-anti-epileptic-drug-development
#20
Norman Delanty, Gianpiero Cavallleri
Traditional antiepileptic drug development approaches have yielded many important clinically valuable anti-epileptic drugs. However, the screening of promising compounds has been naturally agnostic to epilepsy etiology in individual human patients. Now, genomic medicine is changing the way we view human disease. International collaborations are unraveling the many molecular genetic causes of the epilepsies, including the early onset epileptic encephalopathies, and some of the familial focal epilepsies. Further advances in precision diagnostics will be facilitated by ongoing large collaborations and the wider availability of whole exome and whole genome sequencing in clinical practice...
July 2017: Neurochemical Research
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