Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

Giovanni Coppola; Chiara Criscuolo; Giuseppe De Michele; Fabrizio Barbieri; Pasquale Striano; Anna Perretti; Lucio Santoro; Vincenzio Brescia Morra; Francesco Sacca; Valentina Scarano; Adamo P D'Adamo; Sandro Banfi; Paolo Gasparini; Filippo M Santorelli; Anna-Elina Lehesjoki; Alessandro Filla

doi:10.1007/s00415-005-0766-3

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

Giovanni Coppola
, Chiara Criscuolo
, Giuseppe De Michele
, Fabrizio Barbieri
, Pasquale Striano
, Anna Perretti
, Lucio Santoro
, Vincenzio Brescia Morra
, Francesco Sacca
, Valentina Scarano
, Adamo P D'Adamo
, Sandro Banfi
, Paolo Gasparini
, Filippo M Santorelli
, Anna-Elina Lehesjoki
, Alessandro Filla

Avdelningen för medicinsk genetik och klinisk genetik

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Sammanfattning

We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.

Originalspråk	engelska
Tidskrift	Journal of Neurology
Volym	252
Nummer	8
Sidor (från-till)	897-900
Antal sidor	4
ISSN	0340-5354
DOI	https://doi.org/10.1007/s00415-005-0766-3
Status	Publicerad - 2005
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

311 Basmedicin
118 Biovetenskaper
515 Psykologi

Åtkomst av dokument

10.1007/s00415-005-0766-3

Citera det här

Coppola, G., Criscuolo, C., De Michele, G., Barbieri, F., Striano, P., Perretti, A., Santoro, L., Brescia Morra, V., Sacca, F., Scarano, V., D'Adamo, A. P., Banfi, S., Gasparini, P., Santorelli, F. M., Lehesjoki, A.-E., & Filla, A. (2005). Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. Journal of Neurology, 252(8), 897-900. https://doi.org/10.1007/s00415-005-0766-3

@article{e8ae9441749f4e1db4d8bb2b89388173,

title = "Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation",

abstract = "We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.",

keywords = "311 Basic medicine, 118 Biological sciences, 515 Psychology",

author = "Giovanni Coppola and Chiara Criscuolo and \{De Michele\}, Giuseppe and Fabrizio Barbieri and Pasquale Striano and Anna Perretti and Lucio Santoro and \{Brescia Morra\}, Vincenzio and Francesco Sacca and Valentina Scarano and D'Adamo, \{Adamo P\} and Sandro Banfi and Paolo Gasparini and Santorelli, \{Filippo M\} and Anna-Elina Lehesjoki and Alessandro Filla",

year = "2005",

doi = "10.1007/s00415-005-0766-3",

language = "English",

volume = "252",

pages = "897--900",

journal = "Journal of Neurology",

issn = "0340-5354",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "8",

}

Coppola, G, Criscuolo, C, De Michele, G, Barbieri, F, Striano, P, Perretti, A, Santoro, L, Brescia Morra, V, Sacca, F, Scarano, V, D'Adamo, AP, Banfi, S, Gasparini, P, Santorelli, FM, Lehesjoki, A-E & Filla, A 2005, 'Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation', Journal of Neurology, vol. 252, nr. 8, s. 897-900. https://doi.org/10.1007/s00415-005-0766-3

TY - JOUR

T1 - Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

AU - Coppola, Giovanni

AU - Criscuolo, Chiara

AU - De Michele, Giuseppe

AU - Barbieri, Fabrizio

AU - Striano, Pasquale

AU - Perretti, Anna

AU - Santoro, Lucio

AU - Brescia Morra, Vincenzio

AU - Sacca, Francesco

AU - Scarano, Valentina

AU - D'Adamo, Adamo P

AU - Banfi, Sandro

AU - Gasparini, Paolo

AU - Santorelli, Filippo M

AU - Lehesjoki, Anna-Elina

AU - Filla, Alessandro

PY - 2005

Y1 - 2005

N2 - We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.

AB - We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.

KW - 311 Basic medicine

KW - 118 Biological sciences

KW - 515 Psychology

U2 - 10.1007/s00415-005-0766-3

DO - 10.1007/s00415-005-0766-3

M3 - Article

SN - 0340-5354

VL - 252

SP - 897

EP - 900

JO - Journal of Neurology

JF - Journal of Neurology

IS - 8

ER -