FBLN1 P. (HIS695ARG) VARIANT IN A GIRL WITH LATE ONSET EPILEPTIC SPASMS (LOS) AND DISTINCT DYSMORPHIC FEATURES: CLINICAL REPORT

Authors

  • N. Tuychibaeva Tashkent Medical Academy, Pediatric Neurology, Necker Enfants Malades Hospital, Paris, France
  • P. Alimkhodjaeva Tashkent Medical Academy, Pediatric Neurology, Necker Enfants Malades Hospital, Paris, France
  • Olivier Dulac Olivier Dulac Tashkent Medical Academy, Pediatric Neurology, Necker Enfants Malades Hospital, Paris, France
  • T Nishonov Tashkent Medical Academy, Pediatric Neurology, Necker Enfants Malades Hospital, Paris, France

Keywords:

kech boshlangan epileptik spazmlar, LOS, FBLN1, dismorfik belgilar.

Abstract

Kech boshlangan epileptik spazmlar (LOS) - hayotning birinchi yilidan keyin yuzaga keladigan spazmlar turi. Biz
LOS, rivojlanish kechikishi va dismorfik xususiyatlarga ega bo'lgan, boshqa genetik holatlar bilan bir qatorda FBLN1
c.2048A> G (p. His695Arg) mutatsiyasiga ega bo'lgan bemor haqida hisobot beramiz. OMIM ma'lumotlariga ko'ra,
# 608180 FBLN1 geni 3 / 3'4 sinpolidaktiliya, metakarpal va metatarsal sinostozlar bilan bog'liq bo'lishi mumkin,
ammo yuqorida keltirilgan variant ClinVar ma'lumotlar bazasida yaxshi deb belgilangan. FBLN1 mutatsiyasi va epilepsiya,
global rivojlanish kechikishi va aniq dismorfik xususiyatlar o'rtasidagi bog'liqlik ilmiy adabiyotlarida keltirilgan.
FBLN1 ning markaziy asab tizimi va biriktiruvchi to'qima rivojlanishidagi rolini aniqlash uchun qo'shimcha
tadqiqotlar zarur.

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Published

2020-07-08

How to Cite

Tuychibaeva, N., Alimkhodjaeva, P., Olivier Dulac, O. D., & Nishonov, T. (2020). FBLN1 P. (HIS695ARG) VARIANT IN A GIRL WITH LATE ONSET EPILEPTIC SPASMS (LOS) AND DISTINCT DYSMORPHIC FEATURES: CLINICAL REPORT. Toshkent Tibbiyot Akademiyasi Axborotnomasi, (5), 188-190. Retrieved from https://journals.tma.uz/index.php/ttaa/article/view/138

Issue

No. 5 (2019): TTAA

Section

To Help A Practical Doctor