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4,510 Possible Causes for 1,, EPILEPSY,, GLN277TER, JUVENILE,, MYOCLONIC

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  • Juvenile Myoclonic Epilepsy

    Jiang S 1 , Luo C 1 , Gong J 1 , Peng R 1 , Ma S 1, 2 , Tan S 1, 2 , Ye G 1 , Dong L 1 , Yao D 1 .[ncbi.nlm.nih.gov] Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy).[ghr.nlm.nih.gov] Bailey JN 1, 2, 3 , Patterson C 1, 2 , de Nijs L 2, 4 , Durón RM 1, 2, 5 , Nguyen VH 1, 2, 6 , Tanaka M 1, 2, 7 , Medina MT 2, 8 , Jara-Prado A 2, 9 , Martínez-Juárez IE 2[ncbi.nlm.nih.gov] […] features suggestive of frontal lobe epilepsy.[ncbi.nlm.nih.gov] The author describes the clinical features, diagnosis, and treatment of juvenile myoclonic epilepsy in a typical patient.[ncbi.nlm.nih.gov]

    Missing: GLN277TER
  • Idiopathic Generalized Epilepsy

    Author information 1 Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.[ncbi.nlm.nih.gov] […] absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic–clonic[symptoma.com] Clinical aspects of juvenile myoclonic epilepsy.[journal.frontiersin.org] […] type 1 appearance, whereas in one case epileptic spells onset was subsequent.[ncbi.nlm.nih.gov] Idiopathic generalized epilepsies (IGEs) constitute one third of all epilepsies.[epilepsy.com]

    Missing: GLN277TER
  • Neuronal Ceroid Lipofuscinosis

    […] caused by a deficiency of the enzyme palmitoyl protein thioesterase-1.[ncbi.nlm.nih.gov] Abstract Northern epilepsy is an autosomal recessive childhood onset epilepsy syndrome, clinically characterized by generalized tonic-clonic seizures with onset at 5 to 10[ncbi.nlm.nih.gov] KEYWORDS: Juvenile Batten Disease; retinal degeneration; treatment[ncbi.nlm.nih.gov] While NCLs are considered in the differential diagnosis of progressive myoclonus epilepsy, we show that myoclonic seizures are infrequent in JNCL.[ncbi.nlm.nih.gov] Test Details Test code: 6022 Type of disorder: Epilepsy Disease(s) tested for: Epilepsy Genes Included: CLN3 , CLN5 , CLN6 , CLN8 , CTSD , DNAJC5 , KCTD7 , MFSD8 , PPT1 ,[athenadiagnostics.com]

    Missing: GLN277TER
  • Myoclonic Seizures

    Sun Y 1 , Zhang G 2 , Zhang X 2 , Yan X 2 , Li L 1 , Xu C 2 , Yu T 2 , Liu C 1 , Zhu Y 1 , Lin Y 1 , Wang Y 3 .[ncbi.nlm.nih.gov] ) and myoclonic-astatic epilepsy (MAE).[ncbi.nlm.nih.gov] Abstract We studied myoclonic seizures (MS) in 5 patients with juvenile myoclonic epilepsy (JME) using video polygraphic recordings to investigate the clinical characteristics[ncbi.nlm.nih.gov] Juvenile myoclonic epilepsy (JME) is one of the most common generalized epilepsy syndromes and typically presents in the teen years.[docneuro.com] Epilepsy Res. 2011 Jun;95(1-2):168-72. doi: 10.1016/j.eplepsyres.2011.02.006. Epub 2011 Mar 5.[ncbi.nlm.nih.gov]

    Missing: GLN277TER
  • Juvenile Absence Epilepsy

    In the five-year follow-up period, seizure freedom (Group 1) was achieved in 7 patients (15.2%).[ncbi.nlm.nih.gov] PURPOSE: Conventional teaching is that juvenile myoclonic epilepsy (JME) and juvenile absence epilepsy (JAE) require lifelong antiepileptic drug (AED) treatment.[ncbi.nlm.nih.gov] We are looking at brain networks involved in the clinical expression of absence epilepsy and in juvenile myoclonic epilepsy before and after treatment – using simultaneous[epilepsy-london.org] KEYWORDS: Juvenile absence epilepsy; Outcome; Seizure; Treatment[ncbi.nlm.nih.gov] Author information 1 Clinical Neurophysiology Department, National Institute of Neurology, Mexico City, Mexico. [email protected] Abstract The characterization of a seizure[ncbi.nlm.nih.gov]

    Missing: GLN277TER
  • Myoclonic-Astatic Epilepsy

    OBJECTIVE: To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency.[ncbi.nlm.nih.gov] […] from myoclonic-astatic epilepsy successive of myoclonic epilepsy.[symptoma.com] […] well as infantile and juvenile idiopathic epilepsy with generalized tonic-clonic seizures.[ncbi.nlm.nih.gov] ) and myoclonic-astatic epilepsy (MAE).[ncbi.nlm.nih.gov] KEYWORDS: child; diabète de type 1; enfant; epilepsy; ketogenic diet; régime cétogène; type 1 diabetes; épilepsie[ncbi.nlm.nih.gov]

    Missing: GLN277TER
  • Familial Progressive Myoclonic Epilepsy

    References 1 Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related disorders. Ann.[nature.com] There is nothing sacred or sanctifying about it in spite of Hippoc rates' terming epilepsy "The Sacred Disease" in a famous treatise.[books.google.de] Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet . 2004 Aug. 36(8):842-9. [Medline] .[emedicine.medscape.com] Abstract Six siblings, including 4 cases of myoclonic epilepsy, their parents and 2 grandmothers were subjected to systematic investigation, and the patients were followed-up[ncbi.nlm.nih.gov] We report here the clinical and anatomopathological features of two young brothers presenting with a progressive myoclonic epilepsy corresponding to type A of the disease[link.springer.com]

    Missing: GLN277TER
  • Progressive Myoclonic Epilepsy Type 3

    Published on Jan 12, 2017 progressive myoclonic epilepsy 1. Dr.[slideshare.net] Overview Epilepsy, progressive myoclonic 3: A genetic disorder involving the early onset of progressive myoclonic epilepsy.[checkorphan.org] Epilepsy, Juvenile 3 Myoclonic Epilepsy, Juvenile 4 Epilepsy, Progressive Myoclonic, 1b Epilepsy, Familial Adult Myoclonic, 3 Epilepsy, Progressive Myoclonic, 6 Epilepsy,[malacards.org] […] testing done with next gene sequencing NGS sample type Blood or DNA and reporing time is 4 to 5 weeks How to get tested Works Follow below step by step process to get tested 1[dnalabsuae.com] Type 3 (juvenile or subacute neuro-pathic) Gaucher’s disease, presented here as progressive myoclonus epilepsy, occurs more rarely than type 1 (adult or nonneuropathic) or[jkna.org]

    Missing: GLN277TER
  • Benign Adult Familial Myoclonic Epilepsy

    No correlation was detected between (1)H-MRS values and disease duration (p -0.35) as well as myoclonus severity (p -0.48).[ncbi.nlm.nih.gov] (KCNQ3 and childhood absence epilepsy)-the locus assigned here is distinct from these three epilepsy-related loci.[ncbi.nlm.nih.gov] Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet . 2004 Aug. 36(8):842-9. [Medline] .[emedicine.medscape.com] This volume is the first comprehensive text and clinical reference on idiopathic myoclonic epilepsies of infancy, childhood, adolescence, and adulthood.[books.google.com] OBJECTIVE: To investigate electroencephalographic (EEG) features of benign adult familial myoclonic epilepsy (BAFME).[ncbi.nlm.nih.gov]

    Missing: GLN277TER
  • Progressive Myoclonic Epilepsy Type 1

    Author information 1 Department of Clinical Radiology, Kuopio University Hospital, Kuopio, Finland. [email protected] Abstract Progressive myoclonic epilepsy type 1 (EPM1[ncbi.nlm.nih.gov] […] female epilepsy patient New final section covers the epilepsy spectrum, with new chapters on epilepsy and sleep, co-morbidities of childhood, behavioral influence of AEDs[books.google.com] In epilepsy research, TA has been applied in temporal lobe epilepsy, focal cortical dysplasia and juvenile myoclonic epilepsy (JME) [21] – [27] .[journals.plos.org] This volume is the first comprehensive text and clinical reference on idiopathic myoclonic epilepsies of infancy, childhood, adolescence, and adulthood.[books.google.com] RESULTS: Genetic testing confirmed the diagnosis of autosomal recessive progressive myoclonic epilepsy type 1 (EPM1) in two males and three females.[ncbi.nlm.nih.gov]

    Missing: GLN277TER

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