Literature DB >> 26169758

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.

Stefano Doccini1, Maria Chiara Meschini1, Davide Mei2, Renzo Guerrini2, Federico Sicca3,4, Filippo Maria Santorelli5.   

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Year:  2015        PMID： 26169758     DOI： 10.1007/s10072-015-2324-9

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  10 in total

1.  Dravet syndrome and mitochondrial dysfunction.

Authors:  Manuel Castro-Gago; Laura Pérez-Gay; Jesús Eirís-Puñal
Journal:  J Child Neurol       Date:  2011-10       Impact factor: 1.987

2.  Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

Authors:  Eija Gaily; Anna-Kaisa Anttonen; Leena Valanne; Elina Liukkonen; Ann-Liz Träskelin; Anne Polvi; Markus Lommi; Mikko Muona; Kai Eriksson; Anna-Elina Lehesjoki
Journal:  Epilepsia       Date:  2013-06-28       Impact factor: 5.864

3.  Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.

Authors:  Claudia Nesti; Maria Chiara Meschini; Brigitte Meunier; Michele Sacchini; Stefano Doccini; Alessandro Romano; Sara Petrillo; Ilaria Pezzini; Nadir Seddiki; Anna Rubegni; Fiorella Piemonte; M Alice Donati; Gael Brasseur; Filippo M Santorelli
Journal:  Hum Mol Genet       Date:  2015-03-03       Impact factor: 6.150

4.  Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects.

Authors:  Alexa K Craig; Marcio Sotero de Menezes; Russell P Saneto
Journal:  Seizure       Date:  2011-09-08       Impact factor: 3.184

Review 5.  The genetics of Dravet syndrome.

Authors:  Carla Marini; Ingrid E Scheffer; Rima Nabbout; Arvid Suls; Peter De Jonghe; Federico Zara; Renzo Guerrini
Journal:  Epilepsia       Date:  2011-04       Impact factor: 5.864

Review 6.  Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Authors:  Maria Andrea Desbats; Giada Lunardi; Mara Doimo; Eva Trevisson; Leonardo Salviati
Journal:  J Inherit Metab Dis       Date:  2014-08-05       Impact factor: 4.982

7.  Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Authors:  Christel Depienne; Delphine Bouteiller; Boris Keren; Emmanuel Cheuret; Karine Poirier; Oriane Trouillard; Baya Benyahia; Chloé Quelin; Wassila Carpentier; Sophie Julia; Alexandra Afenjar; Agnès Gautier; François Rivier; Sophie Meyer; Patrick Berquin; Marie Hélias; Isabelle Py; Serge Rivera; Nadia Bahi-Buisson; Isabelle Gourfinkel-An; Cécile Cazeneuve; Merle Ruberg; Alexis Brice; Rima Nabbout; Eric Leguern
Journal:  PLoS Genet       Date:  2009-02-13       Impact factor: 5.917

Review 8.  Dravet syndrome--from epileptic encephalopathy to channelopathy.

Authors:  Andreas Brunklaus; Sameer M Zuberi
Journal:  Epilepsia       Date:  2014-05-16       Impact factor: 5.864

9.  Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.

Authors:  Paolo Santambrogio; Sabrina Dusi; Michela Guaraldo; Luisa Ida Rotundo; Vania Broccoli; Barbara Garavaglia; Valeria Tiranti; Sonia Levi
Journal:  Neurobiol Dis       Date:  2015-03-30       Impact factor: 5.996

Review 10.  Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

Authors:  Erika Fernández-Vizarra; Massimo Zeviani
Journal:  Front Genet       Date:  2015-04-09       Impact factor: 4.599
  10 in total
  4 in total

1.  A new mechanism for cannabidiol in regulating the one-carbon cycle and methionine levels in Dictyostelium and in mammalian epilepsy models.

Authors:  Christopher J Perry; Paul Finch; Annette Müller-Taubenberger; Kit-Yi Leung; Eleanor C Warren; Joseph Damstra-Oddy; Devdutt Sharma; Pabitra H Patra; Sarah Glyn; Joanna Boberska; Balint Stewart; Amy Baldwin; Fabiana Piscitelli; Robert J Harvey; Adrian Harwood; Christopher Thompson; Sandrine P Claus; Nicholas D E Greene; Alister J McNeish; Claire M Williams; Benjamin J Whalley; Robin S B Williams
Journal:  Br J Pharmacol       Date:  2020-01-03       Impact factor: 8.739

2.  Enhancing glucose metabolism via gluconeogenesis is therapeutic in a zebrafish model of Dravet syndrome.

Authors:  Rajeswari Banerji; Christopher Huynh; Francisco Figueroa; Matthew T Dinday; Scott C Baraban; Manisha Patel
Journal:  Brain Commun       Date:  2021-01-25

3.  High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Authors:  Anna Ka-Yee Kwong; Virginia Chun-Nei Wong; Sheila Suet-Na Wong; Vanessa Loi-Yan Chu; Saskia Koene; Jan Smeitink; Cheuk-Wing Fung
Journal:  Epilepsia Open       Date:  2021-09-29

Review 4.  Metabolic Dysfunction and Oxidative Stress in Epilepsy.

Authors:  Jennifer N Pearson-Smith; Manisha Patel
Journal:  Int J Mol Sci       Date:  2017-11-08       Impact factor: 5.923
  4 in total

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