DESCRIPTION:

A study with a group of 349 patients showing symptoms of pediatric epilepsy (less than 5 years old) were subjected to targeted re-sequencing. A 30-gene panel was used to find causative mutations, and the number of patients with at least one mutation. Variants were called that were found in the exonic regions and those confined to intronic locations or in the 5 or 3' UTR's were discarded. Causative mutations in 30 genes were established, and the number of patients with mutations in these 30 genes were presented in this gene set. All gene symbols were sanity checked with HGNC.

LABEL:

Number of patients with pediatric epilepsies and mutations in 30 genes

SCORE TYPE:

Effect

DATE ADDED:

2019-05-29

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Elena Parrini, Carla Marini, Davide Mei, Anna Galuppi, Elena Cellini, Daniela Pucatti, Laura Chiti, Domenico Rutigliano, Claudia Bianchini, Simona Virdò, Dalila De Vita, Stefania Bigoni, Carmen Barba, Francesco Mari, Martino Montomoli, Tiziana Pisano, Anna Rosati, , Renzo Guerrini

TITLE:

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

JOURNAL:

Human mutation 02 2017, Vol 38, pp. 216-225

ABSTRACT:

Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients, epilepsy onset occurred before the age of 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30-gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2A was the most frequently mutated gene followed by SCN1A, KCNQ2, STXBP1, SCN8A, CDKL5, and MECP2. Twenty-nine mutations were identified in 23 additional genes, most of them recently associated with epilepsy. Our data show that panels targeting about 100 genes represent the best cost-effective diagnostic option in pediatric drug-resistant epilepsies. They enable molecular diagnosis of atypical phenotypes, allowing to broaden phenotype-genotype correlations. Molecular diagnosis might influence patients' management and translate into better and specific treatment recommendations in some conditions. PUBMED: 27864847
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