The Most Common Treatable Neurometabolic Epilepsies in Children

سال انتشار: 1397
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 321

فایل این مقاله در 8 صفحه با فرمت PDF قابل دریافت می باشد

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این مقاله:

شناسه ملی سند علمی:

JR_RCM-5-2_006

تاریخ نمایه سازی: 18 تیر 1398

چکیده مقاله:

Epilepsy is a common neurological disorder in childhood with prominent neurological manifestations, signs, and symptoms in inherited neurometabolic disorders. Accurate diagnosis of neurometabolic disorders in epileptic patients increases the possibility of a specific treatment to improve epilepsy. Therefore, early diagnosis is essential in potentially treatable epileptic disorders. Various seizure types occur in neurometabolic disorders, which are often refractory to antiepileptic drugs (without the treatment of the underlying neurometabolic disorders). Patients with underlying disorders have severe clinical presentations, such as refractory seizures. In addition, they do not respond to antiepileptic drugs in many cases. In the epileptic patients with developmental delay and/or regression, neurometabolic disorders should be considered in the presence of abnormal neurological examination and brain imaging with specific patterns. Some of these disorders are potentially treatable. Therefore, neurologists should determine the etiology of epilepsy, especially in pediatric patients, and the treatment should not be restricted to symptomatic therapy. The present study aimed to introduce some of the treatable causes of epilepsy in pediatric patients.

کلیدواژه ها:

نویسندگان

Parvaneh Karimzadeh

Iranian Child Neurology Center of Excellence, Pediatric Neurology Department, Mofid Children’s Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran|Pediatric Neurology Research Center, Research

Sasan Saket

Iranian Child Neurology Center of Excellence, Pediatric Neurology Department, Mofid Children’s Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran|Pediatric Neurology Research Center, Research

مراجع و منابع این مقاله:

لیست زیر مراجع و منابع استفاده شده در این مقاله را نمایش می دهد. این مراجع به صورت کاملا ماشینی و بر اساس هوش مصنوعی استخراج شده اند و لذا ممکن است دارای اشکالاتی باشند که به مرور زمان دقت استخراج این محتوا افزایش می یابد. مراجعی که مقالات مربوط به آنها در سیویلیکا نمایه شده و پیدا شده اند، به خود مقاله لینک شده اند :
  • Hunt ad JR, Stokes J Jr, McCRORY WW, et al. ...
  • Stockler S, Plecko B, Gospe SM Jr, et al. Pyridoxine ...
  • Fernandes J, Saudubray JM, Van den Berghe G. Inborn Metabolic ...
  • Mills PB, Struys E, Jakobs C, et al. Mutations in ...
  • Plecko B, Stöckler-Ipsiroglu S, Paschke E, et al. Pipecolic acid ...
  • Gallagher RC, Van Hove JL, Scharer G, et al. Folinic ...
  • Gospe SM. Neonatal Vitamin-responsive Epileptic Encephalopathies. Chang Gung Med J. ...
  • Parisi E, Nicotera A, Alagna A, et al. Neonatal Seizures ...
  • Laoprasert P. Atlas of Pediatric EEG.1st ed. New York:Mc Graw ...
  • Wolf NI, Bast T, Surtees R, et al. Epilepsy in ...
  • Klepper J. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic ...
  • Cremer JE. Substrate utilization and brain development. J Cereb Blood ...
  • Pong AW, Geary BR, Engelstad KM, et al. Glucose transporter ...
  • De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: Current ...
  • Verrotti A, D’Egidio C, Agostinelli S, et al. Glut1 deficiency: ...
  • Rostein M, Englestad K, Yang H, et al. Glut1 deficiency: ...
  • Silver TS, Todd JK. Hypoglycorrhachia in pediatric patients. Pediatrics. 1976;58:67-71. ...
  • Huang HR, Chen HL, Chu SM. Clinical spectrum of meningococcal ...
  • Aktas D, Utine EG, Mrasek K, et al. Derivative chromosome ...
  • De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective ...
  • De Vivo DC, Leary L, Wang D. Glucose transporter 1 ...
  • Klepper J. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res. ...
  • Klepper J, Engelbrecht V, Scheier H. GLUT1 deficiency with delayed ...
  • Corrêa-Giannella ML, Freire DS, Cavaleiro AM, et al. Hyperinsulinism/hyperammonemia (HI/HA) ...
  • Cochrane WA, Payne WW, Simpkiss MJ, et al. Familial hypoglycemia ...
  • Stanley CA. Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of ...
  • Stanley CA. The hyperinsulinism-hyperammonemia syndrome: gain of function mutations of ...
  • MacMullen C, Fang J, Hsu BYL, et al. Hyperinsulinism/Hyperammonemia syndrome ...
  • Hsu BY, Kelly A, Thornton PS, et al. Protein-sensitive and ...
  • Bahi-Buisson N, Roze E, Dionisi C, et al. Neurological aspects ...
  • Stanley CA, Lieu YK, HsuBYL, et al. Hyperinsulinism and hyperammonemia ...
  • De Lonlay P, Benelli C, Fouque F, et al. Hyperinsulinism ...
  • Palladino AA, Stanley CA. The hyperinsulinism/hyperammonemia syndrome. Rev Endocr Metab ...
  • Lahmann C, Ashcroft F. DEND Syndrome: Developmental Delay, Epilepsy, and ...
  • Hattersley AT, Ashcroft FM. Activating mutations in Kir6.2 and neonatal ...
  • PolakM, Shield J. Neonataldiabetesmellitus-genetic aspects. Pediatr Endocrinol Rev. 2004;2:193-198. ...
  • Singh P, Rao SC, Parikh R. Neonatal Diabetes with Intractable ...
  • Edghill EL, Gloyn AL, Gillespie KM, et al. Activating mutations ...
  • Gloyn AL, Pearson ER, Antcliff JF, et al. Activating Mutations ...
  • Mlynarski W, Tarasov AI, Gach A, et al. Sulfonylurea improves ...
  • Ryan SG, Dixon MJ, Nigro MA, et al. Genetic and ...
  • Andermann F, Keene DL, Andermann E, et al. Startle disease ...
  • Praveen V, Patole SK, Whitehall JS. Hyperekplexia in neonates. Postgrad ...
  • Swaiman KF, Ashwal S, Ferriero DM, et al. Swaiman’s Pediatric ...
  • Piña-Garza JE. Fenichel’s Clinical Pediatric Neurology A Signs and Symptoms ...
  • Shiang R, Ryan SG, Zhu YZ, et al. Mutations in ...
  • McAbee GN. Clobazam-Clonazepam Combination Effective for Stimulus-Induced Falling in Hyperekplexia. ...
  • Clark JF, Cecil KM. Diagnostic methods and recommendations for the ...
  • Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, et al. Biochemical and ...
  • Salomons GS, van Dooren SJ, Verhoeven NM, et al. X-linked ...
  • Pearl PL. Inherited Metabolic Epilepsies: The Top 10 Diagnoses You ...
  • Barkovich AJ, Raybaud C. Pediatric neuroimaging. 5th ed. Lippincott Williams ...
  • Battini R, Alessandrì MG, Leuzzi V, et al. Arginine:glycineamidinotransferase (AGAT) ...
  • Stockler-Ipsiroglu S, van Karnebeek C, Longo N, et al. Guanidinoacetate ...
  • Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, et al. GAMT deficiency: ...
  • Tabatabaie L, Klomp LW, Berger R, et al. L-Serine synthesis ...
  • Ichihara A, Greenberg DM. Pathway of serine formation from carbohydrate ...
  • Snell K. Enzymes of serine metabolism in normal, developing and ...
  • Van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, et al. ...
  • Swaiman KF, Ashwal S, Ferriero DM, et al. Swaiman’s Pediatric ...
  • de Koning TJ, Klomp LWJ. Serine-deficiency syndromes.Curr Opin Neurol. 2004;17:197-204. ...
  • de Koning TJ, Poll-The BT, Jaeken J. Continuing education in ...
  • Moat S, Carling R, Nix A, et al. Multicentre age-related ...
  • Hart CE, Race V, Achouri Y, et al. Phosphoserine Aminotransferase ...
  • Akhondian J, Ashrafzadeh A, BeiraghiM, et al. A Treatable Refractory ...
  • Wolf B. The neurology of biotinidase deficiency. Mol Genet Metab. ...
  • Piña-Garza JE. Fenichel’s Clinical Pediatric Neurology A Signs and Symptoms ...
  • Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet ...
  • Swaiman K, Ashwal S, Ferriero DM, et al. Swaiman’s Pediatric ...
  • Cowan TM, Blitzer MG, Wolf B. Technical standards and guidelines ...
  • Wolf B. Clinical issues and frequent questions about biotinidase deficiency. ...
  • Ramaekers VT, Rothenberg SP, Sequeira JM, et al. Autoantibodies to ...
  • Perez-Duenas B, Ormazbal A, Toma C, et al. Cerebral Folate ...
  • RamaekersV ,Sequeira JM, Quadros EV. Clinical recognition and aspects of ...
  • Gordon N. Cerebral folate deficiency. Dev Med Child Neurol. 2009;51:180-182. ...
  • Piña-Garza JE. Fenichel’s Clinical Pediatric Neurology A Signs and Symptoms ...
  • Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. ...
  • Dulac O, Plecko B, Gataullina S, et al. Occasional seizures, ...
  • Blau N, Bélanger-Quintana A, Demirkol M, et al. Optimizing the ...
  • Leuret O, Barth M, Kuster A, et al. Efficacy and ...
  • MenkesJH, Sarnat HB, Maria BL.Child neurology. 7th ed. Philadelphia:Lippincott Williams ...
  • Van Gosen L. Organic acidemias: a methylmalonic and propionic focus. ...
  • Poretti A, Blaser SI, Lequin MH, et al. Neonatal neuroimaging ...
  • Dave P, Curless RG, Steinman L. Cerebellar hemorrhage complicating methylmalonic ...
  • Ogier de Baulny H, Gérard M, Saudubray JM, ET AL. ...
  • Roe CR, Hoppel CL, Stacey TE, et al. Metabolic response ...
  • Rosenblatt DS, Thomas IT, Watkins D, Cooper BA, et al. ...
  • Thompson GN, Walter JH, Bresson JL, et al. Sources of ...
  • Kölker S, Christensen E, Leonard JV, et al. Guideline for ...
  • Hoffmann GF, Athanassopoulos S, Burlina AB, et al. Clinical course, ...
  • Hunt AD Jr, Stokes J Jr, Mc Crory WW ,et ...
  • Fernandes J, Saudubray JM, Berghe Van den G. Inborn Metabolic ...
  • Poretti A, Blaser SI, Lequin MH, et al. Neonatal neuroimaging ...
  • Barkovich AJ, Koch BL, Moore KR. Diagnostic imaging: pediatric neuroradiology. ...
  • Sacharow SJ, Picker JD, Levy HL. Homocystinuria caused by cystathioninebeta-synthase ...
  • Nyhan WL, Barshop BA,Ozand PT. Atlas of Metabolic Diseases. 2nd ...
  • Dulac O, Plecko B, Gataullina S, et al. Occasional seizures, ...
  • Prasad C, Rupar T, Prasad AN.Pyruvate dehydrogenase deficiency and epilepsy. ...
  • DeBrosseSD, Okajima K, Zhang S, Nakouzet al. Spectrum of neurological ...
  • Patel KP, O’Brien TW, Subramony SH, et al. The spectrum ...
  • نمایش کامل مراجع