Detailed Information on Publication Record
2018
Syndróm Dravetovej s mutáciou v SCN1A géne, genetické aspekty a klinické skúsenosti
ČESKÁ, Katarína, Štefánia AULICKÁ, Pavlína DANHOFER, Ondřej HORÁK, Lenka FAJKUSOVÁ et. al.Basic information
Original name
Syndróm Dravetovej s mutáciou v SCN1A géne, genetické aspekty a klinické skúsenosti
Name (in English)
SCN1A mutation positive Dravet syndrome, genetic aspects and clinical experiences
Authors
ČESKÁ, Katarína (703 Slovakia, guarantor, belonging to the institution), Štefánia AULICKÁ (703 Slovakia, belonging to the institution), Pavlína DANHOFER (203 Czech Republic, belonging to the institution), Ondřej HORÁK (203 Czech Republic, belonging to the institution), Lenka FAJKUSOVÁ (203 Czech Republic, belonging to the institution), Slávka POUCHLÁ (203 Czech Republic) and Hana OŠLEJŠKOVÁ (203 Czech Republic, belonging to the institution)
Edition
Česká a slovenská neurologie a neurochirurgie, Praha, Česká lékařská společnost J.E. Purkyně, 2018, 1210-7859
Other information
Language
Czech
Type of outcome
Článek v odborném periodiku
Field of Study
30103 Neurosciences
Country of publisher
Czech Republic
Confidentiality degree
není předmětem státního či obchodního tajemství
Impact factor
Impact factor: 0.355
RIV identification code
RIV/00216224:14110/18:00102805
Organization unit
Faculty of Medicine
UT WoS
000429303400008
Keywords in English
Dravet syndrome; SCN1A gene; genetic diagnostic; manifestation; pharmacoresistency; antiepileptic drugs
Tags
International impact, Reviewed
Změněno: 10/2/2019 19:55, Soňa Böhmová
V originále
Prezentujeme retrospektívnu analýzu súboru 11 pacientov s Dravetovej syndrómom (DS) s preukázanou mutáciou v SCN1A géne (sodium voltage-gated channel alpha subunit 1 – alfa1 podjednotka sodíkového kanálu). Pacienti boli vyšetrení s podozrením na DS od roku 2010 do februára 2017. Cieľom práce bola analýza epidemiologických a klinických nálezov, ako aj hodnotenie efektivity medikamentóznej terapie a nálezov na MR mozgu a EEG. Zvolenou metódou bola analýza údajov a nálezov v zdravotníckej dokumentácií pacientov s DS s preukázanou mutáciou v SCN1A géne a jeho následné štatistické zhodnotenie. Sledovali sme rozvoj ochorenia, pohlavie, typy záchvatových prejavov a ich vekovú väzbu, nálezy na EEG a MR, efekt medikamentóznej terapie. Taktiež sme sa venovali hodnoteniu neurologického nálezu a behaviorálne-mentálneho statusu pacientov.
In English
Aims: We present retrospective analysis of the set of 11 patient group with SCN1A gene (sodium voltage-gated channel alpha subunit 1) positive Dravet syndrome (DS). Patients were examined with suspected DS from 2010 to February 2017. The aim of the study was to analyse epidemiological and clinical data and to assess the efficacy of drug therapy and MRI and EEG findings. Material and methods: In the study the analysis of medical records of patients with SCN1A mutation positive DS and its statistic evaluation was used. We monitored development of disease, gender, types of epileptic seizures and their association with age of patient, findings on EEG and MRI, drug effect. We also evaluated the neurological and behavioral-mental status of patients. Results: In group of 11 patients, there were 7 women (63.6%) and 4 men (36.4%). Average age by manifestation of seizures was 6.5 months. All of the patients have mutation in SCN1A gene. The most frequent seizures were generalized tonic-clonic (81.8%). On the other hand the least occur ring seizures were myoclonic seizures-only 2 from 11 (18.2%). Average time from development of symptomatology to correct diagnosis was by 116 months. In patients born before 2010 it was only 19 months. Conclusion: DS is from prognostic point of view serious type of epilepsy. Since 2010, 52 samples of DS suspected patients were investigated. Eleven proven causal mutations represent 21% of samples. Early diagnostics of disease and correct management is crucial for further course of disease and has major impact on mental status and predicted prognosis.
Links
| ROZV/25/LF/2017, interní kód MU |
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