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    Results: 1 to 20 of 30

    1.

    Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy.

    Ramelli GP, Gallati S, Weis J, Krähenbühl S, Burgunder JM.

    J Child Neurol. 2006 Mar;21(3):253-5.

    PMID:
    16901431
    [PubMed - indexed for MEDLINE]
    2.

    Heteroplasmic mitochondrial DNA mutation in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.

    Chiang LM, Jong YJ, Huang SC, Tsai JL, Pang CY, Lee HC, Wei YH.

    J Formos Med Assoc. 1995 Jan-Feb;94(1-2):42-7. Review.

    PMID:
    7613232
    [PubMed - indexed for MEDLINE]
    3.

    [(Neurological CPC.55). A 60-year-old woman with progressive cerebellar ataxia, myoclonus, and dementia].

    Morikawa N, Mori H, Sumino S, Kodera M, Shirai T, Kondo T, Mizuno Y.

    No To Shinkei. 1997 Jul;49(7):663-71. Japanese.

    PMID:
    9234257
    [PubMed - indexed for MEDLINE]
    4.

    Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation.

    Schuelke M, Bakker M, Stoltenburg G, Sperner J, von Moers A.

    Ann Neurol. 1998 Oct;44(4):700-4.

    PMID:
    9778273
    [PubMed - indexed for MEDLINE]
    5.

    Neuronal Ceroid-Lipofuscinoses.

    Mole SE, Williams RE.

    In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
    2001 Oct 10 [updated 2010 Mar 02].

    PMID:
    20301601
    [PubMed]
    Books & Documents
    6.

    POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

    Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA.

    Brain. 2008 Mar;131(Pt 3):818-28. Epub 2008 Jan 30.

    PMID:
    18238797
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    Rasmussen encephalitis: long-term outcome after surgery.

    Terra-Bustamante VC, Machado HR, dos Santos Oliveira R, Serafini LN, Souza-Oliveira C, Escorsi-Rosset S, Yacubian EM, Naffah-Mazzacoratti Mda G, Scorza CA, Cavalheiro EA, Scorza FA, Sakamoto AC.

    Childs Nerv Syst. 2009 May;25(5):583-9. Epub 2009 Jan 20.

    PMID:
    19153752
    [PubMed - indexed for MEDLINE]
    8.

    Epileptic phenotypes in children with respiratory chain disorders.

    El Sabbagh S, Lebre AS, Bahi-Buisson N, Delonlay P, Soufflet C, Boddaert N, Rio M, Rötig A, Dulac O, Munnich A, Desguerre I.

    Epilepsia. 2010 Jul;51(7):1225-35. Epub 2010 Feb 19.

    PMID:
    20196775
    [PubMed - indexed for MEDLINE]
    9.

    [Phenomenology and psychiatric origins of psychogenic non-epileptic seizures].

    Ristić AJ, Petrović I, Vojvodić N, Janković S, Sokić D.

    Srp Arh Celok Lek. 2004 Jan-Feb;132(1-2):22-7. Serbian.

    PMID:
    15227961
    [PubMed - indexed for MEDLINE]
    10.

    Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy.

    Yoshii A, Takeoka M, Kelly PJ, Krishnamoorthy KS.

    J Child Neurol. 2005 Aug;20(8):696-8.

    PMID:
    16225819
    [PubMed - indexed for MEDLINE]
    11.

    Epilepsy in Wolf-Hirschhorn syndrome (4p-).

    Kagitani-Shimono K, Imai K, Otani K, Kamio N, Okinaga T, Toribe Y, Suzuki Y, Ozono K.

    Epilepsia. 2005 Jan;46(1):150-5.

    PMID:
    15660782
    [PubMed - indexed for MEDLINE]
    12.
    13.

    Mitochondrial Disorders Overview.

    Chinnery PF.

    In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
    2000 Jun 08 [updated 2010 Sep 16].

    PMID:
    20301403
    [PubMed]
    Books & Documents
    14.

    Epilepsia partialis continua associated with widespread gliomatosis cerebri.

    Shahar E, Kramer U, Nass D, Savitzki D.

    Pediatr Neurol. 2002 Nov;27(5):392-6.

    PMID:
    12504209
    [PubMed - indexed for MEDLINE]
    15.

    MERRF.

    DiMauro S, Hirano M.

    In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
    2003 Jun 03 [updated 2009 Aug 18].

    PMID:
    20301693
    [PubMed]
    Books & Documents
    16.

    A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.

    Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R.

    Neurology. 1999 Jan 15;52(2):377-82.

    PMID:
    9932960
    [PubMed - indexed for MEDLINE]
    17.

    Ketoacidosis accompanied by epileptic seizures in a patient with diabetes mellitus and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

    Nakamura S, Yoshinari M, Wakisaka M, Kodera H, Doi Y, Yoshizumi H, Asano T, Iwase M, Mihara F, Fujishima M.

    Diabetes Metab. 2000 Nov;26(5):407-10.

    PMID:
    11119021
    [PubMed - indexed for MEDLINE]
    Free Article
    18.

    Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies.

    Huang CC, Kuo HC, Chu CC, Liou CW, Ma YS, Wei YH.

    J Biomed Sci. 2002;9(6 Pt 1):527-33.

    PMID:
    12372990
    [PubMed - indexed for MEDLINE]
    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. Chinese.

    PMID:
    19099883
    [PubMed - indexed for MEDLINE]
    20.

    G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.

    Shtilbans A, Shanske S, Goodman S, Sue CM, Bruno C, Johnson TL, Lava NS, Waheed N, DiMauro S.

    J Child Neurol. 2000 Nov;15(11):759-61.

    PMID:
    11108511
    [PubMed - indexed for MEDLINE]

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