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(PDF) Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNAPhe gene | Anne Lombes - Academia.edu

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gene.","publication_date":"2010,,","publication_name":"Neurology","grobid_abstract_attachment_id":"40705138"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNAPhe gene","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [35200011]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "full_page_mobile_sutd_modal"; window.loswp.useOptimizedScribd4genScript = false; window.loswp.appleClientId = 'edu.academia.applesignon';</script><script defer="" src="https://accounts.google.com/gsi/client"></script><div class="ds-loswp-container"><div class="ds-work-card--grid-container"><div class="ds-work-card--container js-loswp-work-card"><div 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data-landing_url="https://www.academia.edu/16071364/Severe_epilepsy_as_the_major_symptom_of_new_mutations_in_the_mitochondrial_tRNAPhe_gene" data-login_uri="https://www.academia.edu/registrations/google_one_tap" data-moment_callback="onGoogleOneTapEvent" id="g_id_onload"></div><div class="ds-top-related-works--grid-container"><div class="ds-related-content--container ds-top-related-works--container"><h2 class="ds-related-content--heading">Related papers</h2><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="0" data-entity-id="60854581" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/60854581/Mitochondrial_disease_and_epilepsy">Mitochondrial disease and epilepsy</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="33966771" href="https://ucl.academia.edu/RahmanS">S. 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This study examined the outcome of epilepsy in patients with mitochondrial disorders and its relation with the clinical phenotype, genotype and magnetic resonance imaging findings. The cohort was derived from the database of 67 patients with definite genetic diagnosis of mitochondrial disorders evaluated over a period of 11years (2006-2016). Among this, 27 had epilepsy and were included in final analysis. Data were analyzed with special reference to clinical phenotypes, genotypes, epilepsy characteristics, EEG findings, anti epileptic drugs used, therapeutic response, and magnetic resonance imaging findings. Patients were divided into three groups according to the seizure frequency at the time of last follow up: Group I- Seizure free; Group II- Infrequent seizures; Group III- uncontrolled seizures. For each group the clinical phenotype, genotype, magnetic resonance imaging and duration of...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations&quot;,&quot;attachmentId&quot;:92536593,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/88593830/Outcome_of_epilepsy_in_patients_with_mitochondrial_disorders_Phenotype_genotype_and_magnetic_resonance_imaging_correlations&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/88593830/Outcome_of_epilepsy_in_patients_with_mitochondrial_disorders_Phenotype_genotype_and_magnetic_resonance_imaging_correlations"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="5" data-entity-id="16071326" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/16071326/Phenotypic_heterogeneity_in_families_with_the_myoclonic_epilepsy_and_ragged_red_fiber_disease_point_mutation_in_mitochondrial_DNA">Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="35200011" href="https://independent.academia.edu/AnneLombes">Anne Lombes</a><span>, </span><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="47011744" href="https://independent.academia.edu/SShanske">S. Shanske</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Annals of Neurology, 1993</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA&quot;,&quot;attachmentId&quot;:42761212,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/16071326/Phenotypic_heterogeneity_in_families_with_the_myoclonic_epilepsy_and_ragged_red_fiber_disease_point_mutation_in_mitochondrial_DNA&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/16071326/Phenotypic_heterogeneity_in_families_with_the_myoclonic_epilepsy_and_ragged_red_fiber_disease_point_mutation_in_mitochondrial_DNA"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="6" data-entity-id="21993808" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/21993808/Myoclonus_epilepsy_associated_with_ragged_red_fibers_A_G_to_A_mutation_at_nucleotide_pair_8363_in_mitochondrial_tRNALys_in_two_families">Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="43250037" href="https://independent.academia.edu/IchizoNishino">Ichizo Nishino</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Muscle &amp; Nerve, 1997</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families&quot;,&quot;attachmentId&quot;:42699265,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/21993808/Myoclonus_epilepsy_associated_with_ragged_red_fibers_A_G_to_A_mutation_at_nucleotide_pair_8363_in_mitochondrial_tRNALys_in_two_families&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/21993808/Myoclonus_epilepsy_associated_with_ragged_red_fibers_A_G_to_A_mutation_at_nucleotide_pair_8363_in_mitochondrial_tRNALys_in_two_families"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="7" data-entity-id="57033340" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/57033340/Masucci_J_et_al_In_vitro_analysis_of_mutations_causing_myoclonus_epilepsy_with_ragged_red_fibers_in_the_mitochondrial_tRNALys_gene_two_genotypes_produce_similar_phenotypes_Mol_Cell_Biol_15_2872_2881">Masucci, J. et al. In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNALys gene: two genotypes produce similar phenotypes. Mol. Cell. Biol. 15, 2872-2881</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="42749396" href="https://independent.academia.edu/YasutoshiKoga">Yasutoshi Koga</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular and Cellular Biology</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Masucci, J. et al. In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNALys gene: two genotypes produce similar phenotypes. Mol. Cell. 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