| Title: |
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. |
| Authors: |
Zara F; Specchio N; Striano P; Robbiano A; Gennaro E; Paravidino R; Vanni N; Beccaria F; Capovilla G; Bianchi A; Caffi L; Cardilli V; Fusco L; Gaggero R; Giordano L; Guerrini R; Incorpora G; Mastrangelo M; Spaccini L; Laverda AM; Vecchi M; Vanadia F; Veggiotti P; Viri M; Occhi G; Budetta M; Taglilatela M; Coviello DA; Vigevano F; Minetti C.; DARRA, Francesca; DALLA BERNARDINA, Bernardo |
| Contributors: |
Zara, F; Specchio, N; Striano, P; Robbiano, A; Gennaro, E; Paravidino, R; Vanni, N; Beccaria, F; Capovilla, G; Bianchi, A; Caffi, L; Cardilli, V; Darra, Francesca; DALLA BERNARDINA, Bernardo; Fusco, L; Gaggero, R; Giordano, L; Guerrini, R; Incorpora, G; Mastrangelo, M; Spaccini, L; Laverda, Am; Vecchi, M; Vanadia, F; Veggiotti, P; Viri, M; Occhi, G; Budetta, M; Taglilatela, M; Coviello, Da; Vigevano, F; Minetti, C. |
| Publication Year: |
2013 |
| Collection: |
Università degli Studi di Verona: Catalogo dei Prodotti della Ricerca (IRIS) |
| Subject Terms: |
Benign epilepsy; Channelopathie; KCNQ2; KCNQ3; PRRT2 |
| Description: |
Purpose To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS), benign familial neonatal-infantile seizures (BFNIS), and benign familial infantile seizures (BFIS). Methods Families with at least two first-degree relatives affected by focal seizures starting within the first year of life and normal development before seizure onset were included. Families were classified as BFNS when all family members experienced neonatal seizures, BFNIS when the onset of seizures in family members was between 1 and 4months of age or showed both neonatal and infantile seizures, and BFIS when the onset of seizures was after 4months of age in all family members. SCN2A, KCNQ2, KCNQ3, PPRT2 point mutations were analyzed by direct sequencing of amplified genomic DNA. Genomic deletions involving KCNQ2 and KCNQ3 were analyzed by multiple-dependent probe amplification method. Key Findings A total of 46 families including 165 affected members were collected. Eight families were classified as BFNS, 9 as BFNIS, and 29 as BFIS. Genetic analysis led to the identification of 41 mutations, 14 affecting KCNQ2, 1 affecting KCNQ3, 5 affecting SCN2A, and 21 affecting PRRT2. The detection rate of mutations in the entire cohort was 89%. In BFNS, mutations specifically involve KCNQ2. In BFNIS two genes are involved (KCNQ2, six families; SCN2A, two families). BFIS families are the most genetically heterogeneous, with all four genes involved, although about 70% of them carry a PRRT2 mutation. Significance Our data highlight the important role of KCNQ2 in the entire spectrum of disorders, although progressively decreasing as the age of onset advances. The occurrence of afebrile seizures during follow-up is associated with KCNQ2 mutations and may represent a predictive factor. In addition, we showed that KCNQ3 mutations might be also involved in families with infantile seizures. Taken together our data indicate an important role of ... |
| Document Type: |
article in journal/newspaper |
| File Description: |
STAMPA |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/23360469; info:eu-repo/semantics/altIdentifier/wos/WOS:000315709800007; volume:54; issue:3; firstpage:425; lastpage:436; numberofpages:12; journal:EPILEPSIA; https://hdl.handle.net/11562/625555 |
| DOI: |
10.1111/epi.12089 |
| Availability: |
https://hdl.handle.net/11562/625555; https://doi.org/10.1111/epi.12089 |
| Rights: |
info:eu-repo/semantics/closedAccess ; license:Accesso ristretto |
| Accession Number: |
edsbas.D2C5DB4 |
| Database: |
BASE |