4.8. Enfermedades mitocondriales.

Publicado porAlberto Alcantud

Las enfermedades mitocondriales son un grupo de trastornos genéticos que afectan las mitocondrias, las estructuras celulares encargadas de producir energía en forma de ATP (adenosín trifosfato). Estas enfermedades son causadas por mutaciones en el ADN mitocondrial o en los genes nucleares que codifican proteínas relacionadas con la función mitocondrial. Debido a que las mitocondrias son cruciales para el metabolismo energético de las células, los trastornos mitocondriales pueden afectar múltiples sistemas del cuerpo, incluyendo el cerebro, el sistema nervioso, los músculos, el corazón y otros órganos.

Características o peculiaridades de las enfermedades mitocondriales.
  • Heteroplasmia. La heteroplasmia se refiere a la presencia de diferentes tipos de ADN mitocondrial en una célula o individuo. Las mitocondrias se multiplican dividiéndose de forma independiente al ciclo celular, y en el proceso de copiado pueden producirse errores que se van acumulando con el tiempo. Esta variación en el ADN mitocondrial se conoce como heteroplasmia.
  • Herencia mitocondrial. Las mitocondrias se heredan principalmente a través de la madre, y por lo tanto, el ADN mitocondrial (ADNmt) se hereda exclusivamente de la madre, a diferencia del ADN nuclear, que se hereda de ambos progenitores. Las mutaciones o variantes en el ADN mitocondrial se transmiten de madre a hijos, pero solo las hijas pueden transmitir estas mutaciones a sus descendientes. Los hijos varones no transmiten su ADN mitocondrial a su descendencia.
  • Código genético mitocondrial. El código genético mitocondrial es el conjunto de reglas que determina cómo la información contenida en el ADN mitocondrial (ADNmt) se traduce en proteínas dentro de las mitocondrias, y es similar pero no idéntico al código genético universal utilizado en el resto de la célula, que se encuentra en el ADN nuclear. En el código genético mitocondrial, algunas de las codificaciones de aminoácidos son diferentes, lo que significa que ciertos codones en el ARNm se traducen en aminoácidos diferentes en comparación con el código genético nuclear. Algunas de las diferencias más notables en el código genético mitocondrial son:
    • El codón AGA en el código nuclear codifica para el aminoácido arginina, mientras que en el código mitocondrial codifica para la serina.
    • El codón AGG en el código nuclear codifica para el aminoácido arginina, mientras que en el código mitocondrial también codifica para la serina.
    • El codón UGA en el código nuclear suele ser un codón de parada (codón de terminación), pero en el código mitocondrial codifica para el aminoácido triptófano.
  • Cromosoma mitocondrial. El término “cromosoma mitocondrial” se refiere al material genético contenido en las mitocondrias, pero es importante destacar que las mitocondrias no tienen estructuras cromosómicas similares a los cromosomas del núcleo. Aquí hay algunas características clave del ADN mitocondrial:
    • Forma y Estructura: El ADN mitocondrial suele presentarse en forma de un círculo cerrado, en contraste con los cromosomas lineales en el núcleo.
    • Genes: El ADN mitocondrial contiene un total de 37 genes.
    • Transcripción y Traducción: Las mitocondrias son capaces de transcribir y traducir su propio ADN, lo que les permite sintetizar las proteínas necesarias para su función. Sin embargo, la mayoría de las proteínas requeridas para la función mitocondrial son codificadas por el núcleo y luego importadas a las mitocondrias.

La imagen tiene un atributo ALT vacío; su nombre de archivo es imagen-3.png

Genes codificados en el ADNmt

The 37 genes of the Cambridge Reference Sequence for human mitochondrial DNA and their locations[30]

GeneTypeProductPositions
in the mitogenome		Strand
MT-ATP8protein codingATP synthase, Fo subunit 8 (complex V)08,366–08,572 (overlap with MT-ATP6)H
MT-ATP6protein codingATP synthase, Fo subunit 6 (complex V)08,527–09,207 (overlap with MT-ATP8)H
MT-CO1protein codingCytochrome c oxidase, subunit 1 (complex IV)05,904–07,445H
MT-CO2protein codingCytochrome c oxidase, subunit 2 (complex IV)07,586–08,269H
MT-CO3protein codingCytochrome c oxidase, subunit 3 (complex IV)09,207–09,990H
MT-CYBprotein codingCytochrome b (complex III)14,747–15,887H
MT-ND1protein codingNADH dehydrogenase, subunit 1 (complex I)03,307–04,262H
MT-ND2protein codingNADH dehydrogenase, subunit 2 (complex I)04,470–05,511H
MT-ND3protein codingNADH dehydrogenase, subunit 3 (complex I)10,059–10,404H
MT-ND4Lprotein codingNADH dehydrogenase, subunit 4L (complex I)10,470–10,766 (overlap with MT-ND4)H
MT-ND4protein codingNADH dehydrogenase, subunit 4 (complex I)10,760–12,137 (overlap with MT-ND4L)H
MT-ND5protein codingNADH dehydrogenase, subunit 5 (complex I)12,337–14,148H
MT-ND6protein codingNADH dehydrogenase, subunit 6 (complex I)14,149–14,673L
MT-RNR2protein codingHumanin——
MT-TAtransfer RNAtRNA-Alanine (Ala or A)05,587–05,655L
MT-TRtransfer RNAtRNA-Arginine (Arg or R)10,405–10,469H
MT-TNtransfer RNAtRNA-Asparagine (Asn or N)05,657–05,729L
MT-TDtransfer RNAtRNA-Aspartic acid (Asp or D)07,518–07,585H
MT-TCtransfer RNAtRNA-Cysteine (Cys or C)05,761–05,826L
MT-TEtransfer RNAtRNA-Glutamic acid (Glu or E)14,674–14,742L
MT-TQtransfer RNAtRNA-Glutamine (Gln or Q)04,329–04,400L
MT-TGtransfer RNAtRNA-Glycine (Gly or G)09,991–10,058H
MT-THtransfer RNAtRNA-Histidine (His or H)12,138–12,206H
MT-TItransfer RNAtRNA-Isoleucine (Ile or I)04,263–04,331H
MT-TL1transfer RNAtRNA-Leucine (Leu-UUR or L)03,230–03,304H
MT-TL2transfer RNAtRNA-Leucine (Leu-CUN or L)12,266–12,336H
MT-TKtransfer RNAtRNA-Lysine (Lys or K)08,295–08,364H
MT-TMtransfer RNAtRNA-Methionine (Met or M)04,402–04,469H
MT-TFtransfer RNAtRNA-Phenylalanine (Phe or F)00,577–00,647H
MT-TPtransfer RNAtRNA-Proline (Pro or P)15,956–16,023L
MT-TS1transfer RNAtRNA-Serine (Ser-UCN or S)07,446–07,514L
MT-TS2transfer RNAtRNA-Serine (Ser-AGY or S)12,207–12,265H
MT-TTtransfer RNAtRNA-Threonine (Thr or T)15,888–15,953H
MT-TWtransfer RNAtRNA-Tryptophan (Trp or W)05,512–05,579H
MT-TYtransfer RNAtRNA-Tyrosine (Tyr or Y)05,826–05,891L
MT-TVtransfer RNAtRNA-Valine (Val or V)01,602–01,670H
MT-RNR1ribosomal RNASmall subunit : SSU (12S)00,648–01,601H
MT-RNR2ribosomal RNALarge subunit : LSU (16S)01,671–03,229H
Criterios diagnósticos de enfermedad mitocondrial. Cuando sospechar la presencia de una enfermedad mitocondrial.
Cuando solicitar estudio  de enfermedades mitocodriales si se ha realizado secuenciación NGS. Que te puedes perder si has realizado una secuenciación NGS y buscas una enfermedad mitocondrial.
1.
Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia [Internet]. 2022 [cited 2022 Oct 22];63(6):1398–442. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1111/epi.17241
1.
Kang B, Kwon YS. Benign convulsion with mild gastroenteritis. Korean J Pediatr [Internet]. 2014 [cited 2022 Oct 22];57(7):304. Available from: http://www.e-cep.org/journal/view.php?doi=10.3345/kjp.2014.57.7.304
1.
Lee YS, Lee GH, Kwon YS. Update on benign convulsions with mild gastroenteritis. Clin Exp Pediatr [Internet]. 2021 Dec 27 [cited 2022 Oct 22];65(10):469–75. Available from: http://www.e-cep.org/journal/view.php?doi=10.3345/cep.2021.00997
1.
Verity C, Baker E, Maunder P, Pal S, Winstone AM. Differential diagnosis of progressive intellectual and neurological deterioration in children. Dev Med Child Neurol [Internet]. 2021 Mar [cited 2022 Oct 15];63(3):287–94. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7891454/
1.
Hoffmann K, Müller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, et al. Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit. The American Journal of Human Genetics [Internet]. 2006 Aug 1 [cited 2022 Oct 15];79(2):303–12. Available from: https://www.sciencedirect.com/science/article/pii/S0002929707631371
1.
Hacohen Y, Jacobson LW, Byrne S, Norwood F, Lall A, Robb S, et al. Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies. Neurology - Neuroimmunology Neuroinflammation [Internet]. 2015 Feb 1 [cited 2022 Oct 15];2(1). Available from: https://nn.neurology.org/content/2/1/e57
1.
Polyak A, Kubina RM, Girirajan S. Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [Internet]. 2015 [cited 2022 Oct 15];168(7):600–8. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.b.32338
1.
Moore CA, Staples JE, Dobyns WB, Pessoa A, Ventura CV, Fonseca EB da, et al. Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians. JAMA Pediatrics [Internet]. 2017 Mar 1 [cited 2022 Oct 15];171(3):288–95. Available from: https://doi.org/10.1001/jamapediatrics.2016.3982
1.
Adebanjo T. Update: Interim Guidance for the Diagnosis, Evaluation, and Management of Infants with Possible Congenital Zika Virus Infection — United States, October 2017. MMWR Morb Mortal Wkly Rep [Internet]. 2017 [cited 2022 Oct 15];66. Available from: https://www.cdc.gov/mmwr/volumes/66/wr/mm6641a1.htm
1.
Koens LH, Tijssen MAJ, Lange F, Wolffenbuttel BHR, Rufa A, Zee DS, et al. Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism. Mov Disord [Internet]. 2018 Dec [cited 2022 Oct 10];33(12):1844–56. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587951/
1.
Brodsky MC. Pediatric Neuro-Ophthalmology [Internet]. New York, NY: Springer; 2010 [cited 2022 Oct 10]. Available from: http://link.springer.com/10.1007/978-0-387-69069-8
1.
Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, et al. Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study. Pediatrics [Internet]. 2011 Sep [cited 2022 Oct 10];128(3):e488–95. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3164092/
1.
Yoo J. Differential diagnosis and management of hyperpigmentation. Clinical and Experimental Dermatology [Internet]. 2022 [cited 2022 Oct 8];47(2):251–8. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1111/ced.14747
1.
Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, et al. VarSome: the human genomic variant search engine. Bioinformatics [Internet]. 2019 Jun 1 [cited 2022 Oct 3];35(11):1978–80. Available from: https://doi.org/10.1093/bioinformatics/bty897
1.
Tornese G, Pellegrin MC, Barbi E, Ventura A. Pediatric endocrinology through syndromes. European Journal of Medical Genetics [Internet]. 2020 [cited 2022 Oct 3];63(1):103614. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1769721218303161
1.
Annual Health Checks for People with Intellectual Disabilities in General Practice [Internet]. [cited 2022 Oct 3]. Available from: http://www.intellectualdisability.info/how-to-guides/articles/annual-health-checks-for-people-with-intellectual-disabilities-in-general-practice
1.
Lagorio I, Brunelli L, Striano P. Paroxysmal Nonepileptic Events in Children: A Video Gallery and a Guide for Differential Diagnosis. Neurology: Clinical Practice [Internet]. 2022 Aug 1 [cited 2022 Oct 3];12(4):320–7. Available from: https://cp.neurology.org/content/12/4/320
1.
de Freitas FD, Pimenta S, Soares S, Gonzaga D, Vaz-Matos I, Prior C. El papel de los cannabinoides en los trastornos del neurodesarrollo de niños y adolescentes. Rev Neurol. :9.
1.
Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Medicine [Internet]. 2022 Feb 28 [cited 2022 Oct 3];14(1):23. Available from: https://doi.org/10.1186/s13073-022-01026-w
1.
Patel RA, Hall DA, Eichenseer S, Bailey M. Movement Disorders and Hematologic Diseases. Mov Disord Clin Pract [Internet]. 2020 Dec 29 [cited 2022 Oct 3];8(2):193–207. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7853188/
1.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, et al. Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants. New England Journal of Medicine [Internet]. 2012 Oct 4 [cited 2022 Oct 3];367(14):1321–31. Available from: https://doi.org/10.1056/NEJMoa1200395
1.
Bharath R, Unnikrishnan AG, Thampy MV, Anilkumar A, Nisha B, Praveen VP, et al. Turner syndrome and its variants. Indian J Pediatr [Internet]. 2010 [cited 2022 Sep 24];77(2):193–5. Available from: http://link.springer.com/10.1007/s12098-009-0226-7
1.
Liehr T. Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants. Mol Cytogenet [Internet]. 2016 Jan 22 [cited 2022 Sep 24];9:5. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724132/
1.
Nothing’s for sure, that’s for sure: Evaluating variants of uncertain significance | Beyond the Ion Channel [Internet]. [cited 2022 Sep 22]. Available from: http://epilepsygenetics.net/2016/08/11/nothings-for-sure-thats-for-sure-evaluating-variants-of-uncertain-significance/
1.
Vaz-Drago R, Custódio N, Carmo-Fonseca M. Deep intronic mutations and human disease. Hum Genet [Internet]. 2017 [cited 2020 May 3];136(9):1093–111. Available from: http://link.springer.com/10.1007/s00439-017-1809-4
1.
Barros FS, Marussi VHR, Amaral LLF, da Rocha AJ, Campos CMS, Freitas LF, et al. The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features. Topics in Magnetic Resonance Imaging [Internet]. 2018 [cited 2019 Apr 28];27(6):433–62. Available from: http://Insights.ovid.com/crossref?an=00002142-201812000-00004
1.
Gabriele M, Lopez Tobon A, D’Agostino G, Testa G. The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes. Progress in Neuro-Psychopharmacology and Biological Psychiatry [Internet]. 2018 Jun 8 [cited 2019 Oct 5];84:306–27. Available from: http://www.sciencedirect.com/science/article/pii/S0278584617305389
1.
Guerra J, Cacabelos R. Genomics of speech and language disorders. JTGG [Internet]. 2019 [cited 2020 Sep 25]; Available from: https://jtggjournal.com/article/view/3118
1.
Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, et al. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes. Genet Med [Internet]. 2019 [cited 2019 Sep 3];21(1):114–23. Available from: http://www.nature.com/articles/s41436-018-0033-5
1.
Garone G, Capuano A, Travaglini L, Graziola F, Stregapede F, Zanni G, et al. Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias. IJMS [Internet]. 2020 May 20 [cited 2021 Sep 2];21(10):3603. Available from: https://www.mdpi.com/1422-0067/21/10/3603
1.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, et al. A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. Human Mutation [Internet]. 2016 [cited 2022 Sep 22];37(1):127–34. Available from: https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22918
1.
Beetz C, Bauer P. Dual genetic diagnoses - underappreciated “double trouble.” JBCGenetics [Internet]. 2020 [cited 2022 Sep 13];52–3. Available from: https://www.ejmanager.com/fulltextpdf.php?mno=135141
1.
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. New England Journal of Medicine [Internet]. 2017 Jan 5 [cited 2022 Sep 13];376(1):21–31. Available from: https://doi.org/10.1056/NEJMoa1516767
1.
Koutroumanidis M, Arzimanoglou A, Caraballo R, Goyal S, Kaminska A, Laoprasert P, et al. The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 2). Epileptic Disorders [Internet]. 2017 Dec 1 [cited 2022 Sep 12];19(4):385–437. Available from: http://www.jle.com/fr/revues/epd/e-docs/the_role_of_eeg_in_the_diagnosis_and_classification_of_the_epilepsy_syndromes_a_tool_for_clinical_practice_by_the_ilae_neurophysiology_task_force_part_2__311218/article.phtml?tab=texte
1.
Koutroumanidis M, Arzimanoglou A, Caraballo R, Goyal S, Kaminska A, Laoprasert P, et al. The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 1). Epileptic Disorders [Internet]. 2017 Sep 1 [cited 2022 Sep 12];19(3):233–98. Available from: http://www.jle.com/fr/revues/epd/e-docs/the_role_of_eeg_in_the_diagnosis_and_classification_of_the_epilepsy_syndromes_a_tool_for_clinical_practice_by_the_ilae_neurophysiology_task_force_part_1__310508/article.phtml?tab=texte
1.
Bronkhorst AJ, Ungerer V, Oberhofer A, Gabriel S, Polatoglou E, Randeu H, et al. New Perspectives on the Importance of Cell-Free DNA Biology. Diagnostics [Internet]. 2022 Sep 3 [cited 2022 Sep 12];12(9):2147. Available from: https://www.mdpi.com/2075-4418/12/9/2147
1.
Friedman JM. Neurofibromatosis 1 [Internet]. University of Washington, Seattle; 2022 [cited 2022 Sep 12]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1109/
1.
Myths of Human Genetics: Introduction [Internet]. [cited 2022 Sep 6]. Available from: https://udel.edu/~mcdonald/mythintro.html
1.
Zafar S, Doria J, Karceski S. Should we standardize the EEG classification of mild, moderate, and severe cerebral dysfunction? Epilepsy Behav [Internet]. 2020 Nov 1 [cited 2022 Sep 6];112. Available from: https://www.epilepsybehavior.com/article/S1525-5050%2820%2930511-4/fulltext
1.
Marks K, Coutinho E, Vincent A. Maternal-Autoantibody-Related (MAR) Autism: Identifying Neuronal Antigens and Approaching Prospects for Intervention. JCM [Internet]. 2020 Aug 7 [cited 2022 Aug 31];9(8):2564. Available from: https://www.mdpi.com/2077-0383/9/8/2564
1.
Watkins CE, Litchfield J, Song E, Jaishankar GB, Misra N, Holla N, et al. Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review. Clin Mol Allergy [Internet]. 2011 Nov 23 [cited 2022 Aug 25];9:13. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267648/
1.
Weaver DD, Christian JC. Familial variation of head size and adjustment for parental head circumference. J Pediatr. 1980 Jun;96(6):990–4.
1.
Pös O, Radvanszky J, Buglyó G, Pös Z, Rusnakova D, Nagy B, et al. DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects. Biomedical Journal [Internet]. 2021 Oct 1 [cited 2022 Aug 17];44(5):548–59. Available from: https://www.sciencedirect.com/science/article/pii/S2319417021000093
1.
Talukdar S, Hawkes L, Hanson H, Kulkarni A, Brady AF, McMullan DJ, et al. Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs). Journal of Medical Genetics [Internet]. 2019 Nov 1 [cited 2022 Aug 17];56(11):718–26. Available from: https://jmg.bmj.com/content/56/11/718
1.
Mossink B, Negwer M, Schubert D, Nadif Kasri N. The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective. Cell Mol Life Sci [Internet]. 2021 Mar 1 [cited 2022 Aug 15];78(6):2517–63. Available from: https://doi.org/10.1007/s00018-020-03714-5
1.
Murphy NA, Elias ER, for the Council on Children With Disabilities. Sexuality of Children and Adolescents With Developmental Disabilities. Pediatrics [Internet]. 2006 Jul 1 [cited 2022 Jul 22];118(1):398–403. Available from: https://doi.org/10.1542/peds.2006-1115
1.
Quint EH, O’Brien RF, COMMITTEE ON ADOLESCENCE, The North American Society for Pediatric and Adolescent Gynecology, Braverman PK, Adelman WP, et al. Menstrual Management for Adolescents With Disabilities. Pediatrics [Internet]. 2016 Jul 1 [cited 2022 Jul 22];138(1):e20160295. Available from: https://doi.org/10.1542/peds.2016-0295
1.
McHugh JC, Daly N, Colfer A. Measuring the effects of pre-test probability on out-patient first EEG investigation in children – A guide to evidence-based EEG triage in a pandemic. Seizure - European Journal of Epilepsy [Internet]. 2021 Mar 1 [cited 2022 Jul 20];86:8–15. Available from: https://www.seizure-journal.com/article/S1059-1311%2821%2900010-8/fulltext
1.
Koutroumanidis M, Arzimanoglou A, Caraballo R, Goyal S, Kaminska A, Laoprasert P, et al. The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 1). Epileptic Disorders [Internet]. 2017 Sep 1 [cited 2022 Jul 20];19(3):233–98. Available from: http://www.jle.com/fr/revues/epd/e-docs/the_role_of_eeg_in_the_diagnosis_and_classification_of_the_epilepsy_syndromes_a_tool_for_clinical_practice_by_the_ilae_neurophysiology_task_force_part_1__310508/article.phtml?tab=texte
1.
Koutroumanidis M, Arzimanoglou A, Caraballo R, Goyal S, Kaminska A, Laoprasert P, et al. The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 2). Epileptic Disorders [Internet]. 2017 Dec 1 [cited 2022 Jul 20];19(4):385–437. Available from: http://www.jle.com/fr/revues/epd/e-docs/the_role_of_eeg_in_the_diagnosis_and_classification_of_the_epilepsy_syndromes_a_tool_for_clinical_practice_by_the_ilae_neurophysiology_task_force_part_2__311218/article.phtml?tab=texte

es_ESSpanish
en_GBEnglish es_ESSpanish