Mild Lafora disease: Clinical, neurophysiologic, and genetic findings

Epilepsia

Volumn 55, Issue 12, 2014, Pages e129-e133

  Ferlazzo, Edoardo ^a,b   Canafoglia, Laura ^c   Michelucci, Roberto ^d   Gambardella, Antonio ^a   Gennaro, Elena ^e   Pasini, Elena ^d   Riguzzi, Patrizia ^d   Plasmati, Rosaria ^d   Volpi, Lilia ^d   Labate, Angelo ^a   Gasparini, Sara ^a,b   Villani, Flavio ^c   Casazza, Marina ^c   Viri, Maurizio ^f   Zara, Federico ^g   Minassian, Berge A ^h   Turnbull, Julie ^h   Serratosa, Jose M ⁱ   Guerrero Lõpez, Rosa ⁱ   Franceschetti, Silvana ^c   Aguglia, Umberto ^a,b   more..

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b BIANCHI MELACRINO MORELLI HOSPITAL   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^e GALLIERA HOSPITAL   (Italy)

^f FATEBENEFRATELLI HOSPITAL   (Italy)

^g G GASLINI INSTITUTE   (Italy)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ UAM)   (Spain)

Author keywords

Dementia; EEG; Mild; Progressive myoclonus epilepsy; Slowly progressive

Indexed keywords

ABSENCE; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL PRACTICE; DISABILITY; DISEASE COURSE; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; EVOKED SOMATOSENSORY RESPONSE; FEMALE; FOLLOW UP; GAIT; GENE MUTATION; GENETIC COUNSELING; HEREDITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INDEL MUTATION; ITALIAN (CITIZEN); MALE; MYOCLONUS EPILEPSY; NEUROPHYSIOLOGY; ONSET AGE; PATIENT AUTONOMY; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SCORING SYSTEM; TONIC CLONIC SEIZURE; YOUNG ADULT; GENETICS; ITALY; LAFORA DISEASE; LONGITUDINAL STUDY; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY;

CARRIER PROTEIN; EPM2A PROTEIN, HUMAN; NHLRC1 PROTEIN, HUMAN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE;

ADOLESCENT; ADULT; CARRIER PROTEINS; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; ITALY; LAFORA DISEASE; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; MUTATION; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; YOUNG ADULT;

EID: 84920183366     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12806     Document Type: Article

References (15)

1. Franceschetti S, Gambardella A, Canafoglia L, et al. Clinical and genetic findings in 26 Italian patients with Lafora disease. Epilepsia 2006; 47: 640-643.
2. Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonus epilepsies: definite and still undetermined causes. Neurology 2014; 82: 405-411.
3. Van Heycop Ten Ham MV,. Lafora disease, a form of progressive myoclonus epilepsy. In, Vinken PJ, Bruin GW, (Eds) Handbook of clinical neurology, 15. North Holland, Amsterdam: Elsevier, 1974: 382-422.
4. Tinuper P, Aguglia U, Pellissier JF, et al. Visual ictal phenomena in a case of Lafora disease proven by skin biopsy. Epilepsia 1983; 24: 214-218.
5. Tinuper P, Gobbi G, Aguglia U, et al. Occipital seizures in Lafora disease: a further case documented by EEG. Clin Electroencephalogr 1985; 16: 167-170.
6. Serratosa JM, Minassian BA, Ganesh S,. Progressive myoclonus epilepsy of Lafora. In, Noebels JL, Avoli M, Rogawski MA, et al., editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012. Available from: http://www.ncbi.nlm.nih.gov/books/NBK98134/. Accessed January 9, 2013.
7. Tassinari CA, Bureau-Paillas M, Dalla Bernardina B, et al. Lafora disease. Rev Electroencephalogr Neurophysiol Clin 1978; 8: 107-122.
8. Gomez-Abad C, Gomez-Garre P, Gutierrez-Delicado E, et al. Lafora disease due to EPM2B mutations: a clinical and genetic study. Neurology 2005; 64: 982-986.
9. Lesca G, Boutry-Kryza N, de Toffol B, et al. Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. Epilepsia 2010; 5: 1691-1698.
10. Baykan B, Striano P, Gianotti S, et al. Late onset and slow progressing Lafora disease in four siblings with EPM2B mutation. Epilepsia 2005; 46: 1695-1697.
11. Lanoiselée H-M, Genton P, Lescad G, et al. Are c.436G>A mutations less severe forms of Lafora disease? A case report. Epilepsy Behav Case Rep 2014; 2: 19-21.
12. Guerrero R, Vernia S, Sanz R, et al. A PTG variant contributes to a milder phenotype in Lafora disease. PLoS ONE 2011; 6: e21294.
13. Cardinali S, Canafoglia L, Bertoli S, et al. A pilot study of a ketogenic diet in patients with Lafora body disease. Epilepsy Res 2006; 69: 129-134.
14. Singh S, Ganesh S,. Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. Hum Mutat 2009; 30: 715-723.
15. Andrade DM, Ackerley CA, Minett TS, et al. Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology 2003; 61: 1611-1614.