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Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome
by
Ivanova, Nevyana
,
Peycheva, Valentina
,
Kamenarova, Kunka
,
Kancheva, Dalia
,
Tsekova, Irina
,
Aleksandrova, Iliana
,
Hristova, Dimitrina
,
Litvinenko, Ivan
,
Todorova, Diana
,
Sarailieva, Gergana
,
Dimova, Petya
,
Tomov, Veselin
,
Bozhinova, Veneta
,
Mitev, Vanio
,
Kaneva, Radka
,
Jordanova, Albena
Published in
Seizure (London, England)
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Founder p.Arg 446 mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children
by
Ivanov, Ivan S.
,
Azmanov, Dimitar N.
,
Ivanova, Mariya B.
,
Chamova, Teodora
,
Pacheva, Ilyana H.
,
Panova, Margarita V.
,
Song, Sharon
,
Morar, Bharti
,
Yordanova, Ralitsa V.
,
Galabova, Fani K.
,
Sotkova, Iglika G.
,
Linev, Alexandar J.
,
Bitchev, Stoyan
,
Shearwood, Anne-Marie J.
,
Kancheva, Dalia
,
Gabrikova, Dana
,
Karcagi, Veronika
,
Guergueltcheva, Velina
,
Geneva, Ina E.
,
Bozhinova, Veneta
,
Stoyanova, Vili K.
,
Kremensky, Ivo
,
Jordanova, Albena
,
Savov, Aleksey
,
Horvath, Rita
,
Brown, Matthew A.
,
Tournev, Ivailo
,
Filipovska, Aleksandra
,
Kalaydjieva, Luba
Published in
Molecular genetics and metabolism
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Journal Title
Molecular Genetics And Metabolism
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Seizure
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1
Subjects
Acgh Analysis
1 results
1
Acidosis, Lactic - Diagnosis
1 results
1
Acidosis, Lactic - Genetics
1 results
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Adolescent
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1
Child
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Child, Preschool
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Clinical Neurology
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Codon
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Congenital Lactic Acidosis
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Consanguinity
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Dna Mutational Analysis
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Female
1 results
1
Founder Effect
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Genotype
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Glut1-Ds
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Humans
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Infant
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Infant, Newborn
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Life Sciences & Biomedicine
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Male
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Sciencedirect (Online Service)
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Sciencedirect Freedom Collection 2022-2024
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Bacon - Elsevier - Global Sciencedirect-Openaccess
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Ezb Electronic Journals Library
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