LAMA2 stop-codon mutation: Merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression

European Journal of Paediatric Neurology

Volumn 13, Issue 1, 2009, Pages 72-76

  Vigliano, Piernanda ^a   Dassi, Patrizia ^a   Blasi, Claudia Di ^b   Mora, Marina ^b   Jarre, Laura ^a  

^a Division of Child Neuropsychiatry   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Absence like status; Congenital muscular dystrophy; Cortical dysplasia; Focal epilepsy; Laminin 2 deficiency; Micropolygyria

Indexed keywords

4 AMINOBUTYRIC ACID; CARBAMAZEPINE; DNA; GAMMA VINIL; LAMININ ALPHA2; MEROSIN; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID;

ARTICLE; BRAIN; CASE REPORT; CHILD; DEFENSE MECHANISM; DNA DETERMINATION; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; EPILEPSY; FEMALE; FOCAL EPILEPSY; GENE MUTATION; HOMOZYGOTE; HUMAN; HUMAN TISSUE; MENTAL DETERIORATION; MICROGYRIA; MOBILIZATION; MOLECULAR EVOLUTION; MOTOR PERFORMANCE; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL POLYMICROGYRIA; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PSYCHOMOTOR PERFORMANCE; STOP CODON; WAKEFULNESS;

CHILD; CODON, NONSENSE; COGNITION DISORDERS; EPILEPSY; FEMALE; GENOTYPE; HUMANS; LAMININ; MAGNETIC RESONANCE IMAGING; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUSCULAR DYSTROPHIES; OCCIPITAL LOBE; PHENOTYPE; SEIZURES;

EID: 57449098068     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2008.01.010     Document Type: Article

References (11)

1. Muntoni F., and Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord 14 (2004) 635-649
2. Pegoraro E., Fanin M., Trevisan C.P., et al. A novel laminin α2 isoform in severe laminin α2 deficient congenital muscular dystrophy. Neurology 55 1 (2000) 1128-1134
3. Prandini P., Berardinelli A., Fanin M., et al. LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy. Neurology 63 (2004) 1118-1121
4. Di Blasi C., Piga D., Brioschi P., et al. LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. Arch Neurol 62 10 (2005) 1582-1586
5. Trevisan C.P., Martinello F., Ferruzza E., and Angelini C. Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up. Eur Neurol 35 (1995) 230-235
6. Pini A., Merlini L., Tomé F.M.S., Chevallay M., and Gobbi G. Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. Brain Dev 18 (1996) 316-322
7. Philpot J., Cowan F., Pennock J., et al. Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. Nuromuscul Disord 9 (1999) 81-85
8. Guerrini R., Dubeau F., Dulac O., et al. Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol 41 1 (1997) 65-73
9. Jones K.J., Morgan G., Johnston H., et al. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet 38 10 (2001) 649-657
10. Brett F.M., Costigan D., Farrell M.A., et al. Merosin-deficient congenital muscular dystrophy and cortical dysplasia. Eur J Paediatr Neurol 2 (1998) 77-82
11. Guicheney P., Vignier N., Helbling-Leclerc A., et al. Genetics of laminin α-2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. Neuromuscul Disord 7 (1997) 180-186