Genotype-Phenotype Correlations in a Group of 15 SCN1A-Mutated Italian Patients with GEFS plus Spectrum (Seizures plus, Classical and Borderline Severe Myoclonic Epilepsy of Infancy)

被引:10
作者
Nicita, Francesco [1 ]
Spalice, Alberto [1 ]
Papetti, Laura [1 ]
Ursitti, Fabiana [1 ]
Parisi, Pasquale [2 ]
Gennaro, Elena [3 ]
Zara, Federico [4 ]
Iannetti, Paola [1 ]
机构
[1] Univ Roma La Sapienza, Dept Paediat, Fac Med 1, Rome, Italy
[2] Univ Roma La Sapienza, Fac Med 2, Headache Paediat Ctr, Paediat Sleep Ctr,Chair Paediat,St Andrea Hosp, Rome, Italy
[3] EO Osped Galliera, Genet Lab, Genoa, Italy
[4] Inst G Gaslini, Muscular & Neurodegenerat Dis Unit, Genoa, Italy
关键词
SCN1A; Dravet syndrome; genotype-phenotype; SCN1A MUTATION MOSAICISM; FEBRILE SEIZURES; GENERALIZED EPILEPSY; GENE SCN1A; SMEI; DYSFUNCTION; CHILDHOOD; SCNIA;
D O I
10.1177/0883073810365737
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Mutations in SCN1A gene have been associated with the spectrum of generalized/genetic epilepsy with febrile seizures plus. Recently, databases reporting SCN1A mutations and clinical details of patients have been created to facilitate genotype-phenotype correlations, actually not completely defined, particularly if a specific mutation underlies phenotypes. We report on a group of 15 patients with clinical features of GEFS+ (3), classical (7), or borderline severe myoclonic epilepsy of infancy (5), in whom genetic analysis of patients and parents and follow-up period were performed to establish genotype-phenotype correlations, to enrich literature and databases data. We found 11 pathogenic mutations (5 novel: c. 80 G>C exon 1; c. 187 T>C exon 1; c. 3061 G>T exon 16; c. 4297 G>A exon 22; c. 5579 delA ins TCTCC exon 26) and 4 novel nucleotidic variants (IVS5+38 C>T intron 5; IVS8-19 C>T intron 18; c. 4945 C>T exon 25; c. 5127 C>A exon 26). Paternal inheritance was observed in 4/4 cases.
引用
收藏
页码:1369 / 1376
页数:8
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