P1-85: Not only Dravet Syndrome – How broad the phenotypic spectrum of SCN1A mutations may be?
PBN-AR
Instytucja
Instytut Matki i Dziecka
Informacje podstawowe
Główny język publikacji
angielski
Czasopismo
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (25pkt w roku publikacji)
ISSN
1090-3798
EISSN
Wydawca
ELSEVIER SCI LTD
DOI
URL
Rok publikacji
2017
Numer zeszytu
Suppl. 1 Abstracts of EPNS 2017
Strony od-do
e54-e54
Numer tomu
21
Identyfikator DOI
Liczba arkuszy
Konferencja
Indeksowana w Scopus
nie
Indeksowana w Web of Science Core Collection
nie
Liczba cytowań z Web of Science Core Collection
Nazwa konferencji (skrócona)
EPNS 2017
Nazwa konferencji
12th European Paediatric Neurology Society Congress, Lyon, France, June 20-24, 2017
Początek konferencji
2017-06-20
Koniec konferencji
2017-06-24
Lokalizacja konferencji
Lyon
Kraj konferencji
FR
Lista innych baz czasopism i abstraktów w których była indeksowana
Streszczenia
Język
angielski
Treść
Objective: Mutations in the SCN1A gene are the well-recognised cause of the early infantile epileptic encephalopathy e Dravet Syndrome. They are also identified in GEFS+ and rarely in other syndromes. The aim of our analysis was characterization of the epileptic syndromes caused by SCN1A mutations identified among Polish patients, to whom analysis of this gene was performed. Methods: The group under analysis consisted of 89 probands, 61% of patients with identified mutation in SCN1A gene, to whom detailed clinical data were obtained. Sanger sequencing of all SCN1A exons and exon/intron boundaries as well the target NGS, with custom designed panel of 49 EIEEs genes were used. The SCN1A deletion analysis was performed with MLPA method in patients without identified pathogenic mutation or mutation of ambiguous pathogenicity. Syndromes characterization/nomenclature was according to the guidelines of Commission on Classification and Terminology of ILAE. Results: Variants, of the SCN1A gene, identified in probands encompass all type of mutations; truncation (nonsense, frameshift), splicing, missense and gene deletions. The patients presented broad phenotypic spectrum. Identified phenotypes included Dravet Syndrome (61) and Dravet Syndrome Borderline (14) but also GEFS+ syndrome (8), Panayotopoulous Syndrome (2), Lennox-Gastaut Syndrome (1), Migrating Partial Seizures of Infancy (1). In one case neonatal seizures evolved in DS. In two cases identified as atypical West Syndrome and Epilepsy-intellectual disability in females, the SCN1A variants were identified as additional factors to mutations in ARX and PCDH19 genes modifying the disease course, and as a cause of migraine in probands' families (3). Conclusion: Phenotypic and genetic heterogeneity among EIEEs has been recognized since the first “epilepsy genes” identification. Because of that we can expect involvement more then one gene in phenotype expression, so the broad EIEEs genes panels analysis in correlation with phenotypic picture may be crucial in interpretation of all those data and final diagnosis.
Cechy publikacji
streszczenie z konferencji
Inne
System-identifier
PX-5d495755d5de6b69dfa54465
CrossrefMetadata from Crossref logo
Cytowania
Liczba prac cytujących tę pracę
Brak danych
Referencje
Liczba prac cytowanych przez tę pracę
Brak danych