TY - JOUR
T1 - Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations
AU - Striano, Pasquale
AU - Mancardi, Maria Margherita
AU - Biancheri, Roberta
AU - Madia, Francesca
AU - Gennaro, Elena
AU - Paravidino, Roberta
AU - Beccaria, Francesca
AU - Capovilla, Giuseppe
AU - Bernardina, Bernardo Dalla
AU - Darra, Francesca
AU - Elia, Maurizio
AU - Giordano, Lucio
AU - Gobbi, Giuseppe
AU - Granata, Tiziana
AU - Ragona, Francesca
AU - Guerrini, Renzo
AU - Marini, Carla
AU - Mei, Davide
AU - Longaretti, Francesca
AU - Romeo, Antonino
AU - Siri, Laura
AU - Specchio, Nicola
AU - Vigevano, Federico
AU - Striano, Salvatore
AU - Tortora, Fabio
AU - Rossi, Andrea
AU - Minetti, Carlo
AU - Dravet, Charlotte
AU - Gaggero, Roberto
AU - Zara, Federico
PY - 2007/6
Y1 - 2007/6
N2 - Introduction: To determine the occurrence of neuroradiological abnormalities and to perform genotype-phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome). Patients and Methods: Alpha-subunit type A of voltage-gated sodium channel (SCN1A) mutational screening was performed by denaturing high-performance liquid chromatography (DHPLC) and multiplex ligation probe amplification (MLPA). MRI inclusion criteria were: last examination obtained after the age of 4 years on 1.5-T systems; hippocampal cuts acquired perpendicular to the long axis of the hippocampus; qualitative assessment was performed on T1-weighted, T2-weighted, proton density, and 1-3 mm thick coronal FLAIR images. Results: We collected 58 SMEI patients in whom last MRI was performed at or later than 4 years of age. SCN1A mutations occurred in 35 (60%) cases. Thirteen (22.4%) out of 58 patients showed abnormal MRIs. Eight patients showed cortical brain atrophy of which 3 associated to ventricles abnormalities, 1 to cerebellar atrophy, 1 to white matter hyperintensity; 3 patients had ventricles enlargement only; 1 patient showed hippocampal sclerosis (HS); 1 had focal cortical dysplasia. Genotype-phenotype analysis indicated that abnormal MRIs occurred more frequently in patients without SCN1A mutations (9/23; 39.1%) compared to those carrying SCN1A mutations (4/35; 11.4%) (p = 0.02). Conclusion: Different brain abnormalities may occur in SMEI. Only one case with HS was observed; thus, our study does not support the association between prolonged febrile seizures and HS in SMEI. Abnormal MRIs were significantly more frequent in patients without SCN1A mutations. Prospective MRI studies will assess the etiological role of the changes observed in these patients.
AB - Introduction: To determine the occurrence of neuroradiological abnormalities and to perform genotype-phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome). Patients and Methods: Alpha-subunit type A of voltage-gated sodium channel (SCN1A) mutational screening was performed by denaturing high-performance liquid chromatography (DHPLC) and multiplex ligation probe amplification (MLPA). MRI inclusion criteria were: last examination obtained after the age of 4 years on 1.5-T systems; hippocampal cuts acquired perpendicular to the long axis of the hippocampus; qualitative assessment was performed on T1-weighted, T2-weighted, proton density, and 1-3 mm thick coronal FLAIR images. Results: We collected 58 SMEI patients in whom last MRI was performed at or later than 4 years of age. SCN1A mutations occurred in 35 (60%) cases. Thirteen (22.4%) out of 58 patients showed abnormal MRIs. Eight patients showed cortical brain atrophy of which 3 associated to ventricles abnormalities, 1 to cerebellar atrophy, 1 to white matter hyperintensity; 3 patients had ventricles enlargement only; 1 patient showed hippocampal sclerosis (HS); 1 had focal cortical dysplasia. Genotype-phenotype analysis indicated that abnormal MRIs occurred more frequently in patients without SCN1A mutations (9/23; 39.1%) compared to those carrying SCN1A mutations (4/35; 11.4%) (p = 0.02). Conclusion: Different brain abnormalities may occur in SMEI. Only one case with HS was observed; thus, our study does not support the association between prolonged febrile seizures and HS in SMEI. Abnormal MRIs were significantly more frequent in patients without SCN1A mutations. Prospective MRI studies will assess the etiological role of the changes observed in these patients.
KW - Dravet syndrome
KW - Genotype-phenotype correlations
KW - MRI
KW - SCN1A
KW - Severe myoclonic epilepsy of infancy
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U2 - 10.1111/j.1528-1167.2007.01020.x
DO - 10.1111/j.1528-1167.2007.01020.x
M3 - Article
C2 - 17381446
AN - SCOPUS:34249774883
VL - 48
SP - 1092
EP - 1096
JO - Epilepsia
JF - Epilepsia
SN - 0013-9580
IS - 6
ER -