These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 15592994)

  • 1. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
    Molinari F; Raas-Rothschild A; Rio M; Fiermonte G; Encha-Razavi F; Palmieri L; Palmieri F; Ben-Neriah Z; Kadhom N; Vekemans M; Attie-Bitach T; Munnich A; Rustin P; Colleaux L
    Am J Hum Genet; 2005 Feb; 76(2):334-9. PubMed ID: 15592994
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.
    Molinari F; Kaminska A; Fiermonte G; Boddaert N; Raas-Rothschild A; Plouin P; Palmieri L; Brunelle F; Palmieri F; Dulac O; Munnich A; Colleaux L
    Clin Genet; 2009 Aug; 76(2):188-94. PubMed ID: 19780765
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.
    André MV; Cacciagli P; Cano A; Vaugier L; Roussel M; Girard N; Chabrol B; Villard L; Milh M
    Arch Pediatr; 2021 Jan; 28(1):87-92. PubMed ID: 33342683
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Epileptic encephalopathies in early infancy with suppression-burst.
    Ohtahara S; Yamatogi Y
    J Clin Neurophysiol; 2003; 20(6):398-407. PubMed ID: 14734930
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.
    Cohen R; Basel-Vanagaite L; Goldberg-Stern H; Halevy A; Shuper A; Feingold-Zadok M; Behar DM; Straussberg R
    Eur J Paediatr Neurol; 2014 Nov; 18(6):801-5. PubMed ID: 25033742
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
    Reid ES; Williams H; Anderson G; Benatti M; Chong K; James C; Ocaka L; ; Hemingway C; Little D; Brown R; Parker A; Holden S; Footitt E; Rahman S; Gissen P; Mills PB; Clayton PT
    J Inherit Metab Dis; 2017 May; 40(3):385-394. PubMed ID: 28255779
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Familial benign nonprogressive myoclonic epilepsies.
    Striano P; de Falco FA; Minetti C; Zara F
    Epilepsia; 2009 May; 50 Suppl 5():37-40. PubMed ID: 19469844
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
    Lemattre C; Imbert-Bouteille M; Gatinois V; Benit P; Sanchez E; Guignard T; Tran Mau-Them F; Haquet E; Rivier F; Carme E; Roubertie A; Boland A; Lechner D; Meyer V; Thevenon J; Duffourd Y; Rivière JB; Deleuze JF; Wells C; Molinari F; Rustin P; Blanchet P; Geneviève D
    Eur J Hum Genet; 2019 Nov; 27(11):1692-1700. PubMed ID: 31285529
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
    Poulat AL; Ville D; de Bellescize J; André-Obadia N; Cacciagli P; Milh M; Villard L; Lesca G
    Epilepsy Res; 2015 Mar; 111():72-7. PubMed ID: 25769375
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.
    Van Bogaert P; Azizieh R; Désir J; Aeby A; De Meirleir L; Laes JF; Christiaens F; Abramowicz MJ
    Ann Neurol; 2007 Jun; 61(6):579-86. PubMed ID: 17455289
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance.
    de Falco FA; Majello L; Santangelo R; Stabile M; Bricarelli FD; Zara F
    Epilepsia; 2001 Dec; 42(12):1541-8. PubMed ID: 11879364
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Epilepsies and epileptic syndromes starting in the neonatal period.
    Yamamoto H; Okumura A; Fukuda M
    Brain Dev; 2011 Mar; 33(3):213-20. PubMed ID: 21067877
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mitochondrial glutamate carriers from Drosophila melanogaster: biochemical, evolutionary and modeling studies.
    Lunetti P; Cappello AR; Marsano RM; Pierri CL; Carrisi C; Martello E; Caggese C; Dolce V; Capobianco L
    Biochim Biophys Acta; 2013 Oct; 1827(10):1245-55. PubMed ID: 23850633
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Myoclonic-astatic epilepsy.
    Doose H
    Epilepsy Res Suppl; 1992; 6():163-8. PubMed ID: 1418479
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Atypical early infantile epileptic encephalopathy with suppression-burst].
    Kito M; Aso K; Ohki T; Maeda N; Haga Y; Negoro T; Watanabe K
    No To Hattatsu; 1993 May; 25(3):254-8. PubMed ID: 8517986
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.
    Bahi-Buisson N; El Sabbagh S; Soufflet C; Escande F; Boddaert N; Valayannopoulos V; Bellané-Chantelot C; Lascelles K; Dulac O; Plouin P; de Lonlay P
    Seizure; 2008 Oct; 17(7):658-64. PubMed ID: 18321734
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Adult-onset autosomal dominant myoclonic epilepsy: report of a family with an overlooked epileptic syndrome.
    Hsin YL; Chuang MF; Shyu WC; Lin CY; Chen YH; Harnod T
    Seizure; 2007 Mar; 16(2):160-5. PubMed ID: 17174115
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation.
    Takeda K; Miyamoto Y; Yamamoto H; Ishii A; Hirose S; Yamamoto H
    Brain Dev; 2020 Jan; 42(1):73-76. PubMed ID: 31492455
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy].
    Zhang YH; Sun HH; Liu XY; Ma XW; Yang ZX; Xiong H; Qin J; Lin Q; Wu XR
    Zhonghua Er Ke Za Zhi; 2008 Oct; 46(10):769-73. PubMed ID: 19099883
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
    Schuelke M; Smeitink J; Mariman E; Loeffen J; Plecko B; Trijbels F; Stöckler-Ipsiroglu S; van den Heuvel L
    Nat Genet; 1999 Mar; 21(3):260-1. PubMed ID: 10080174
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.