ČESKÁ, Katarína, Štefánia AULICKÁ, Pavlína DANHOFER, Ondřej HORÁK, Lenka FAJKUSOVÁ, Slávka POUCHLÁ and Hana OŠLEJŠKOVÁ. Syndróm Dravetovej s mutáciou v SCN1A géne, genetické aspekty a klinické skúsenosti (SCN1A mutation positive Dravet syndrome, genetic aspects and clinical experiences). Česká a slovenská neurologie a neurochirurgie. Praha: Česká lékařská společnost J.E. Purkyně, vol. 81, No 1, p. 55-59. ISSN 1210-7859. doi:10.14735/amcsnn201855. 2018.
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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
Original language Czech
Type of outcome Article in a journal
Field of Study 30103 Neurosciences
Country of publisher Czech Republic
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 0.355
RIV identification code RIV/00216224:14110/18:00102805
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.14735/amcsnn201855
UT WoS 000429303400008
Keywords in English Dravet syndrome; SCN1A gene; genetic diagnostic; manifestation; pharmacoresistency; antiepileptic drugs
Tags 14110212, 14110320, EL OK, rivok
Tags International impact, Reviewed
Changed by Changed by: Soňa Böhmová, učo 232884. Changed: 10/2/2019 19:55.
Abstract
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.
Abstract (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 MUName: LF - Příspěvek na IP 2017
Investor: Ministry of Education, Youth and Sports of the CR, Internal development projects
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