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https://www.readbyqxmd.com/read/28923014/scn8a-mutations-in-chinese-patients-with-early-onset-epileptic-encephalopathy-and-benign-infantile-seizures
#1
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/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#2
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28873364/refractory-spasms-of-focal-onset-a-potentially-curable-disease-that-should-lead-to-rapid-surgical-evaluation
#3
Mathilde Chipaux, Georg Dorfmüller, Martine Fohlen, Nathalie Dorison, Marie-Astrid Metten, Olivier Delalande, Sarah Ferrand-Sorbets, Delphine Taussig
PURPOSE: Infantile spasms (IS) can occur as the only seizure type in children with surgically amenable epilepsies. Although early surgery has shown positive effects, little is known regarding outcomes. METHODS: We retrospectively reviewed all children with IS referred to our tertiary center between 2002 and 2014 and try to define factors of outcome. RESULTS: Sixty-eight children with focal onset seizures were referred: twenty children with a hemispheric implication and 48 with one or more lobes involved...
August 31, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28872899/two-novel-variants-affecting-cdkl5-transcript-associated-with-epileptic-encephalopathy
#4
Jana Neupauerová, Katalin Štěrbová, Markéta Vlčková, Věra Sebroňová, Tat'ána Maříková, Marcela Krůtová, David Staněk, Pavel Kršek, Markéta Žaliová, Pavel Seeman, Petra Laššuthová
BACKGROUND: Variants in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been reported as being etiologically associated with early infantile epileptic encephalopathy type 2 (EIEE2). We report on two patients, a boy and a girl, with EIEE2 that present with early onset epilepsy, hypotonia, severe intellectual disability, and poor eye contact. METHODS: Massively parallel sequencing (MPS) of a custom-designed gene panel for epilepsy and epileptic encephalopathy containing 112 epilepsy-related genes was performed...
September 5, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28870817/-prrt2-mutation-and-infantile-convulsions
#5
M Mathot, D Lederer, S Gerard, E Gueulette, M Deprez
New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial hemiplegic migraine (FHM type 4), paroxysmal benign torticollis of childhood, and episodic ataxia. We describe the case of an infant, carrying a mutation of the PRRT2 gene, with a classical presentation...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28803659/seizing-control-of-kcc2-a-new-therapeutic-target-for-epilepsy
#6
REVIEW
Yvonne E Moore, Matt R Kelley, Nicholas J Brandon, Tarek Z Deeb, Stephen J Moss
Deficits in GABAergic inhibition result in the abnormal neuronal activation and synchronization that underlies seizures. However, the molecular mechanisms responsible for transforming a normal brain into an epileptic one remain largely unknown. Hyperpolarizing inhibition mediated by type A GABA (GABAA) receptors is dependent on chloride extrusion by the neuron-specific type 2K(+)-Cl(-) cotransporter (KCC2). Loss-of-function mutations in KCC2 are a known cause of infantile epilepsy in humans and KCC2 dysfunction is present in patients with both idiopathic and acquired epilepsy...
August 10, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28799511/treatment-of-epileptic-encephalopathies
#7
Simona Balestrini, Sanjay M Sisodiya
BACKGROUND: Epileptic encephalopathies represent the most severe epilepsies, with onset in infancy and childhood and seizures continuing in adulthood in most cases. New genetic causes are being identified at a rapid rate. Treatment is challenging and the overall outcome remains poor. Available targeted treatments, based on the precision medicine approach, are currently few. OBJECTIVE: To provide an overview of the treatment of epileptic encephalopathies with known genetic determinants, including established treatment, anecdotal reports of specific treatment, and potential tailored precision medicine strategies...
August 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28794249/not-all-scn1a-epileptic-encephalopathies-are-dravet-syndrome-early-profound-thr226met-phenotype
#8
Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, Simone Mandelstam, Elaine Wirrell, Katherine C Nickels, Hema R Murali, Gemma Carvill, Candace T Myers, Heather C Mefford, Ingrid E Scheffer
OBJECTIVE: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS: We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms...
September 5, 2017: Neurology
https://www.readbyqxmd.com/read/28782931/an-lc-ms-ms-based-method-for-the-quantification-of-pyridox-am-ine-5-phosphate-oxidase-activity-in-dried-blood-spots-from-patients-with-epilepsy
#9
Matthew P Wilson, Emma J Footitt, Apostolos Papandreou, Mari-Liis Uudelepp, Ronit Pressler, Danielle C Stevenson, Camila Gabriel, Mel McSweeney, Matthew Baggot, Derek Burke, Tommy Stödberg, Kate Riney, Manuel Schiff, Simon J R Heales, Kevin A Mills, Paul Gissen, Peter T Clayton, Philippa B Mills
We report the development of a rapid, simple, and robust LC-MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay, and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B6, affected patients can have a normal developmental outcome. Prognosis of these patients is therefore reliant upon a rapid diagnosis...
September 5, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28762286/childhood-onset-epileptic-encephalopathy-associated-with-isolated-focal-cortical-dysplasia-and-a-novel-tsc1-germline-mutation
#10
Hannes Hoelz, Eva Coppenrath, Konstanze Hoertnagel, Timo Roser, Moritz Tacke, Lucia Gerstl, Ingo Borggraefe
Tuberous sclerosis complex (TSC) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the TSC1 and TSC2 genes. Many patients present with West syndrome, a severe epilepsy syndrome characterized by the triad of infantile spasms, an interictal electroencephalogram (EEG) pattern termed hypsarrhythmia (continuous slow activity with an amplitude higher than 300 µV and multiregional spikes/polyspikes/sharp waves) and developmental regression. In this study, we report on a previously healthy patient with positive family history of epilepsy with new-onset epileptic encephalopathy at the age of 9 years...
March 1, 2017: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/28747448/movement-disorder-in-gnao1-encephalopathy-associated-with-gain-of-function-mutations
#11
Huijie Feng, Benita Sjögren, Behirda Karaj, Vincent Shaw, Aysegul Gezer, Richard R Neubig
OBJECTIVE: To define molecular mechanisms underlying the clinical spectrum of epilepsy and movement disorder in individuals with de novo mutations in the GNAO1 gene. METHODS: We identified all GNAO1 mutations reported in individuals with epilepsy (early infantile epileptiform encephalopathy 17) or movement disorders through April 2016; 15 de novo mutant alleles from 25 individuals were introduced into the Gαo subunit by site-directed mutagenesis in a mammalian expression plasmid...
August 22, 2017: Neurology
https://www.readbyqxmd.com/read/28739361/gender-affects-long-term-neurological%C3%A2-outcome-of-neonates
#12
Amir Freud, Eyal Sheiner, Tamar Wainstock, Daniella Landau, Asnat Walfisch
OBJECTIVE: We evaluated the possible association between fetal gender and long-term pediatric neurological morbidity. METHODS: We performed a population-based retrospective cohort analysis comparing the risk of long-term neurological morbidity (up to age 18 years) of children born during the years 1991 to 2013 according to their gender. Neurological morbidity evaluated included hospitalizations in childhood involving pervasive developmental disorder, obstructive sleep apnea, cerebral palsy, epilepsy, and infantile spasms and disorders of eating as recorded in the hospital files...
September 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#13
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/28721058/clinical-patterns-and-outcomes-of-status-epilepticus-in-patients-with-tuberous-sclerosis-complex
#14
Hatem S Shehata, Hadeer Mahmoud AbdelGhaffar, Mohammed Nasreldin, Alaa Elmazny, Ahmed Abdelalim, Asmaa Sabbah, Nevin M Shalaby
INTRODUCTION: Refractory epilepsy is a common clinical manifestation in patients with tuberous sclerosis complex (TSC), which can be complicated by many life-threatening conditions, such as status epilepticus (SE). However, very few reports mention the patterns and semiology of SE in those patients. OBJECTIVE: To study the clinical characteristics and outcomes of SE in TSC patients. MATERIALS AND METHODS: This observational, prospective study was carried out on 36 Egyptian children with definite TSC...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28691158/anticonvulsant-effect-of-cannabinoid-receptor-agonists-in-models-of-seizures-in-developing-rats
#15
Megan N Huizenga, Evan Wicker, Veronica C Beck, Patrick A Forcelli
OBJECTIVE: Although drugs targeting the cannabinoid system (e.g., CB1 receptor agonists) display anticonvulsant efficacy in adult animal models of seizures/epilepsy, they remain unexplored in developing animal models. However, cannabinoid system functions emerge early in development, providing a rationale for targeting this system in neonates. We examined the therapeutic potential of drugs targeting the cannabinoid system in three seizure models in developing rats. METHODS: Postnatal day (P) 10, Sprague-Dawley rat pups were challenged with the chemoconvulsant methyl-6,7-dimethoxy-4-ethyl-beta-carboline-3-carboxylate (DMCM) or pentylenetetrazole (PTZ), after treatment with either CB1/2 mixed agonist (WIN 55,212-2), CB1 agonist (arachidonyl-2'-chloroethylamide [ACEA]), CB2 agonist (HU-308), CB1 antagonist (AM-251), CB2 antagonist (AM-630), fatty acid amide hydrolase inhibitor (URB-597), or G protein-coupled receptor 55 agonist (O-1602)...
September 2017: Epilepsia
https://www.readbyqxmd.com/read/28687180/a-patient-with-early-myoclonic-encephalopathy-eme-with-a-de-novo-kcnq2-mutation
#16
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/28681378/update-on-the-mechanisms-and-roles-of-high-frequency-oscillations-in-seizures-and-epileptic-disorders
#17
REVIEW
Premysl Jiruska, Catalina Alvarado-Rojas, Catherine A Schevon, Richard Staba, William Stacey, Fabrice Wendling, Massimo Avoli
High-frequency oscillations (HFOs) are a type of brain activity that is recorded from brain regions capable of generating seizures. Because of the close association of HFOs with epileptogenic tissue and ictogenesis, understanding their cellular and network mechanisms could provide valuable information about the organization of epileptogenic networks and how seizures emerge from the abnormal activity of these networks. In this review, we summarize the most recent advances in the field of HFOs and provide a critical evaluation of new observations within the context of already established knowledge...
August 2017: Epilepsia
https://www.readbyqxmd.com/read/28676574/aberrant-sodium-channel-currents-and-hyperexcitability-of-medial-entorhinal-cortex-neurons-in-a-mouse-model-of-scn8a-encephalopathy
#18
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 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...
August 9, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28675559/neuroinflammation-in-epileptogenesis-insights-and-translational-perspectives-from-new-models-of-epilepsy
#19
Melissa L Barker-Haliski, Wolfgang Löscher, H Steve White, Aristea S Galanopoulou
Animal models have provided a wealth of information on mechanisms of epileptogenesis and comorbidogenesis, and have significantly advanced our ability to investigate the potential of new therapies. Processes implicating brain inflammation have been increasingly observed in epilepsy research. Herein we discuss the progress on animal models of epilepsy and comorbidities that inform us on the potential role of inflammation in epileptogenesis and comorbidity pathogenesis in rodent models of West syndrome and the Theiler's murine encephalomyelitis virus (TMEV) mouse model of viral encephalitis-induced epilepsy...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28673551/analyses-of-slc13a5-epilepsy-patients-reveal-perturbations-of-tca-cycle
#20
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...
August 2017: Molecular Genetics and Metabolism
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