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Volumn 13, Issue 8, 2004, Pages 582-586

Spinal muscular atrophy and progressive myoclonic epilepsy: One case report and characteristics of the epileptic syndrome

Author keywords

Progressive myoclonic epilepsy; Review; SMA plus; Spinal muscular atrophy

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAM; ELECTROPHYSIOLOGY; GENETICS; HUMAN; IDIOPATHIC DISEASE; MALE; MEDICAL LITERATURE; METABOLIC DISORDER; MYOCLONUS EPILEPSY; ONSET AGE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 9244257928     PISSN: 10591311     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.seizure.2004.01.008     Document Type: Article
Times cited : (12)

References (20)
  • 1
    • 0141722855 scopus 로고    scopus 로고
    • Disease of the motor unit
    • Menkes JH, Sarnat HB, editors. Lippincott Williams & Wilkins
    • Menkes JH, Sarnat HB. Disease of the motor unit. In: Menkes JH, Sarnat HB, editors. Child neurology. Lippincott Williams & Wilkins; 2000. p. 1027-1092
    • (2000) Child Neurology , pp. 1027-1092
    • Menkes, J.H.1    Sarnat, H.B.2
  • 2
    • 9244252851 scopus 로고
    • Neuromuscular disorders
    • Berg BO, editor. 2nd ed. JB Lippincott Company
    • Berg BO. Neuromuscular disorders. In: Berg BO, editor. Child neurology-a clinical manual 2nd ed. JB Lippincott Company; 1994. p. 95-137
    • (1994) Child Neurology - A Clinical Manual , pp. 95-137
    • Berg, B.O.1
  • 3
    • 0037304531 scopus 로고    scopus 로고
    • 93rd ENMC International Workshop: Non-5q-spinal muscular atrophies (SMA)-clinical picture (6-8 April 2001, Naarden, The Netherlands)
    • Zerres K. Rudnik-Schoneborn S. 93rd ENMC International Workshop: non-5q-spinal muscular atrophies (SMA)-clinical picture (6-8 April 2001, Naarden, The Netherlands) Neuromuscul. Disord. 13 2003 179-183
    • (2003) Neuromuscul. Disord. , vol.13 , pp. 179-183
    • Zerres, K.1    Rudnik-Schoneborn, S.2
  • 4
    • 0032933619 scopus 로고    scopus 로고
    • Spinal muscular dystrophy: Untangling the knot?
    • Biros I. Forrest S. Spinal muscular dystrophy: Untangling the knot? J. Med. Genet. 36 1999 1-8
    • (1999) J. Med. Genet. , vol.36 , pp. 1-8
    • Biros, I.1    Forrest, S.2
  • 5
    • 0025260440 scopus 로고
    • Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13-3
    • Brzustowicz L.M. Lehner T. Castilla L.H. et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13-3 Nature 344 1990 540-541
    • (1990) Nature , vol.344 , pp. 540-541
    • Brzustowicz, L.M.1    Lehner, T.2    Castilla, L.H.3
  • 6
    • 0028922174 scopus 로고
    • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
    • van der Steege G. Grootscholten P.M. van der Vlies P. et al PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy Lancet 345 1995 985-986
    • (1995) Lancet , vol.345 , pp. 985-986
    • van der Steege, G.1    Grootscholten, P.M.2    van der Vlies, P.3
  • 7
    • 0030776040 scopus 로고    scopus 로고
    • Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system
    • Battaglia G. Princivalli A. Forti A. Forti F. Lizier C. Zeviani M. Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system Hum. Mol. Genet. 6 1997 1961-1971
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1961-1971
    • Battaglia, G.1    Princivalli, A.2    Forti, A.3    Forti, F.4    Lizier, C.5    Zeviani, M.6
  • 8
    • 0016138252 scopus 로고
    • Progressive myoclonic epilepsy: A clinical and histopathological study
    • Koskiniemi M. Donner M. Haltia M. Norio R. Progressive myoclonic epilepsy: A clinical and histopathological study Acta Neurol. Scand. 50 1974 307-332
    • (1974) Acta Neurol. Scand. , vol.50 , pp. 307-332
    • Koskiniemi, M.1    Donner, M.2    Haltia, M.3    Norio, R.4
  • 9
    • 0018293925 scopus 로고
    • Hereditary myoclonus and progressive distal muscular atrophy
    • Jancovic J. Rivera V.M. Hereditary myoclonus and progressive distal muscular atrophy Ann. Neurol. 6 1979 227-231
    • (1979) Ann. Neurol. , vol.6 , pp. 227-231
    • Jancovic, J.1    Rivera, V.M.2
  • 11
    • 0022405309 scopus 로고
    • Unusual familial association of epilepsy, myoclonus and muscular atrophy. Case report
    • [in Italian]
    • D'Ecclesia G. Scorrano V. Bernardini C. Poli V. Unusual familial association of epilepsy, myoclonus and muscular atrophy. Case report [in Italian] Riv. Neurol. 55 1985 313-316
    • (1985) Riv. Neurol. , vol.55 , pp. 313-316
    • D'Ecclesia, G.1    Scorrano, V.2    Bernardini, C.3    Poli, V.4
  • 12
    • 0025487953 scopus 로고
    • Progressive familial myoclonic epilepsy with bulbo-spinal amyotrophy. Clinical, electrophysiological study and biopsy of a case
    • [in Italian]
    • Taglioli M. Bartolini S. Volpi G. Alberti G. Ambrosetto G. Progressive familial myoclonic epilepsy with bulbo-spinal amyotrophy. Clinical, electrophysiological study and biopsy of a case [in Italian] Riv. Neurol. 60 1990 201-206
    • (1990) Riv. Neurol. , vol.60 , pp. 201-206
    • Taglioli, M.1    Bartolini, S.2    Volpi, G.3    Alberti, G.4    Ambrosetto, G.5
  • 13
    • 0027240912 scopus 로고
    • Association of progressive myoclonic epilepsy and spinal muscular atrophy
    • Marjanovic B. Todorovic S. Dozic S. Association of progressive myoclonic epilepsy and spinal muscular atrophy Paediatr. Neurol. 9 1993 147-150
    • (1993) Paediatr. Neurol. , vol.9 , pp. 147-150
    • Marjanovic, B.1    Todorovic, S.2    Dozic, S.3
  • 14
    • 0033827353 scopus 로고    scopus 로고
    • Genetically confirmed spinal muscular atrophy type III with epilepsy, cerebral hypoperfusion, and parahippocampal gyrus atrophy
    • [in Japanese]
    • Higashi K. Nakagawa M. Higuchi I. Saito K. Osame M. Genetically confirmed spinal muscular atrophy type III with epilepsy, cerebral hypoperfusion, and parahippocampal gyrus atrophy [in Japanese] Rinsho Shinkeigaku 40 2000 334-338
    • (2000) Rinsho Shinkeigaku , vol.40 , pp. 334-338
    • Higashi, K.1    Nakagawa, M.2    Higuchi, I.3    Saito, K.4    Osame, M.5
  • 15
    • 0036996530 scopus 로고    scopus 로고
    • Spinal muscular atrophy with progressive myoclonic epilepsy: New cases and review of literature
    • Haliloglu G. Chattopadhyay A. Skorodis L. et al. Spinal muscular atrophy with progressive myoclonic epilepsy: New cases and review of literature Neuropediatrics 33 2002 314-319
    • (2002) Neuropediatrics , vol.33 , pp. 314-319
    • Haliloglu, G.1    Chattopadhyay, A.2    Skorodis, L.3
  • 16
    • 0001727717 scopus 로고
    • Minipolymyoclonus: A neglected sign in childhood spinal muscular atrophy
    • Spyro A.J. Minipolymyoclonus: A neglected sign in childhood spinal muscular atrophy Neurology 20 1970 1124-1126
    • (1970) Neurology , vol.20 , pp. 1124-1126
    • Spyro, A.J.1
  • 17
    • 0021883175 scopus 로고
    • Primary generalized epileptic myoclonus: A frequent manifestation of minipolymyoclonus of central origin
    • Wilkins D.E. Hallett M. Erba G. Primary generalized epileptic myoclonus: A frequent manifestation of minipolymyoclonus of central origin J. Neurol. Neurosurg. Psychiatry 48 1985 506-516
    • (1985) J. Neurol. Neurosurg. Psychiatry , vol.48 , pp. 506-516
    • Wilkins, D.E.1    Hallett, M.2    Erba, G.3
  • 18
    • 0036224823 scopus 로고    scopus 로고
    • Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13
    • Viollet L. Barois A. Rebeiz J.G. et al. Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13 Ann. Neurol. 51 2002 585-592
    • (2002) Ann. Neurol. , vol.51 , pp. 585-592
    • Viollet, L.1    Barois, A.2    Rebeiz, J.G.3
  • 19
    • 0029009458 scopus 로고
    • A gene for a severe lethal form of X-linked arthrogryposis (X-linked spinal muscular atrophy) maps to chromosome Xp11.3-q11.2
    • Kobayashi H. Baumbach L. Mtise T.C. Schiavi A. Greenberg F. Hoffman E.P. A gene for a severe lethal form of X-linked arthrogryposis (X-linked spinal muscular atrophy) maps to chromosome Xp11.3-q11.2 Hum. Mol. Genet. 4 1995 1213-1216
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1213-1216
    • Kobayashi, H.1    Baumbach, L.2    Mtise, T.C.3    Schiavi, A.4    Greenberg, F.5    Hoffman, E.P.6
  • 20
    • 0028854467 scopus 로고
    • Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q
    • Dubowitz V. Daniels R.J. Davies K.E. Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q Neuromuscul. Disord. 5 1995 25-29
    • (1995) Neuromuscul. Disord. , vol.5 , pp. 25-29
    • Dubowitz, V.1    Daniels, R.J.2    Davies, K.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.