JLE

Epileptic Disorders

MENU

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A Volume 19, numéro 2, June 2017

  • [Arsov et al., 2011] Arsov T., Smith K.R., Damiano J. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in . Am J Hum Genet. 2011;88:566-573. CLN65
  • [Augustine et al., 2015] Augustine E.F., Adams H.R., Beck C.A. Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2015;57:366-371. 4
  • [Baykan et al., 2005] Baykan B., Striano P., Gianotti S. Late-onset and slow-progressing Lafora disease in four siblings with mutation. Epilepsia. 2005;46:1695-1697. EPM2B10
  • [Berkovic et al., 2016] Berkovic S.F., Staropoli J.F., Carpenter S. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology. 2016;87:579-584. 6
  • [Coşkun et al., 2015] Coşkun T., Kiziltan M., Gündüz A., Delil Ş., Yeni N., Özkara Ç. Blink reflex in progressive myoclonic epilepsies. Seizure. 2015;29:169-173.
  • [Fox and Bassuk, 2014] Fox MH, Bassuk AG. PRICKLE1-related progressive myoclonus epilepsy with ataxia. In: Pagon RA, Adam MP, Ardinger H.H, et al., eds. GeneReviews® (Internet). Seattle (WA): University of Washington, Seattle, 2014:1993-2015.
  • [Gao et al., 2002] Gao H., Boustany R.M., Espinola J.A. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002;70:324-335. 2
  • [Heine et al., 2007] Heine C., Quitsch A., Storch S. Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. Mol Membr Biol. 2007;24:74-87. 1
  • [Kızıltan et al., 2016] Kızıltan M.E., Gündüz A., Coşkun T. Startle response in progressive myoclonic epilepsy. Clin EEG Neurosci. 2016;48:123-129. 2
  • [Koskiniemi et al., 1998] Koskiniemi M., Van Vleymen B., Hakamies L., Lamusuo S., Taalas J. Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo. J Neurol Neurosurg Psychiatry. 1998;64:344-348. 3
  • [Muona et al., 2015] Muona M., Berkovic S.F., Dibbens L.M. A recurrent mutation in causes progressive myoclonus epilepsy. Nat Genet. 2015;47:39-46. de novoKCNC11
  • [Nita et al., 2016] Nita D.A., Mole S.E., Minassian B.A. Neuronal ceroid lipofuscinoses. Epileptic Disord. 2016;18:73-88. S2
  • [Striano and Belcastro, 2017] Striano P., Belcastro V. Update on pharmacotherapy of myoclonic seizures. Expert Opin Pharmacother. 2017;18:187-193. 2
  • [Vural et al., 2003] Vural M., Ozekmekçi S., Apaydin H., Altinel A. High-dose piracetam is effective on cerebellar ataxia in patient with cerebellar cortical atrophy. Mov Disord. 2003;18:457-459. 4
  • [Wheeler et al., 2002] Wheeler R.B., Sharp J.D., Schultz R.A. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. Am J Hum Genet. 2002;70:537-542. 2