A Mutation in the SCN1A Gene With a Peculiar Course: A Case Report

被引：1

作者：

Sur, Lucia ^{[1
]}

Samasca, Gabriel ^{[2
]}

Sur, Genel ^{[3
]}

Gaga, Remus ^{[3
]}

Aldea, Cornel ^{[3
]}

机构：

[1] Iuliu Hatieganu Univ Med & Pharm, Pediat, Cluj Napoca, Romania

[2] Iuliu Hatieganu Univ Med & Pharm, Immunol, Cluj Napoca, Romania

[3] Emergency Clin Hosp Children, Pediat, Cluj Napoca, Romania

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2021年 / 13卷 / 02期

关键词：

epilepsy; febrile seizures; brain mri normal; child; no neurological degradation; MORTALITY;

D O I：

10.7759/cureus.13612

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In this report, we present the case of a one-year-old female patient with a history of febrile seizures, which was characterized by multiple seizures during hot baths and more than one episode of status epilepticus. Dravet syndrome was suspected due to the clinical context of the seizures and was confirmed by genetic testing. The brain MRI was found to be normal. Throughout the course of disease progression, the patient showed no signs of neurological degradation. The patient was found to have a mutation in the SCN1A gene with a peculiar course, which had not been reported previously. The normal psychomotor development, as seen in this case, highlights the different possibilities related to disease progression in Dravet syndrome.

引用

页数：3

共 50 条

[21] Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
Brunklaus, A.
Ellis, R.
Reavey, E.
Forbes, G. H.
Zuberi, S. M.
BRAIN, 2012, 135 : 2329 - 2336
[22] Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report
El Mouhi, Hinde
Amllal, Nada
Abbassi, Meriame
Nedbour, Ayoub
Jalte, Meryem
Lyahyai, Jaber
Chafai Elalaoui, Siham
Bouguenouch, Laila
Chaouki, Sana
MOLECULAR BIOLOGY REPORTS, 2024, 51 (01)
[23] Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS plus ?
Sijben, Angelique E. J.
Sithinamsuwan, Pasiri
Radhakrishnan, Ashalata
Badawy, Radwa A. B.
Dibbens, Leanne
Mazarib, Aziz
Lev, Dorit
Lerman-Sagie, Tally
Straussberg, Rachel
Berkovic, Samuel F.
Scheffer, Ingrid E.
EPILEPSIA, 2009, 50 (04) : 953 - 956
[24] Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A
Y.-J. Chen
Y.-W. Shi
H.-Q. Xu
M.-L. Chen
M.-M. Gao
W.-W. Sun
B. Tang
Y. Zeng
W.-P. Liao
Molecular Neurobiology, 2015, 51 : 1263 - 1270
[25] An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability
Barela, AJ
Waddy, SP
Lickfett, JG
Hunter, J
Anido, A
Helmers, SL
Goldin, AL
Escayg, A
JOURNAL OF NEUROSCIENCE, 2006, 26 (10) : 2714 - 2723
[26] De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
Henriksen, Mari Wold
Ravn, Kirstine
Paus, Benedicte
von Tetzchner, Stephen
Skjeldal, Ola H.
BMC MEDICAL GENETICS, 2018, 19
[27] Milder phenotype with SCN1A truncation mutation other than SMEI
Yu, Mei-Juan
Shi, Yi-Wu
Gao, Mei-Mei
Deng, Wei-Yi
Liu, Xiao-Rong
Chen, Li
Long, Yue-Sheng
Yi, Yong-Hong
Liao, Wei-Ping
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2010, 19 (07): : 443 - 445
[28] A catalog of SCN1A variants
Lossin, Christoph
BRAIN & DEVELOPMENT, 2009, 31 (02) : 114 - 130
[29] SCN1A and Its Related Epileptic Phenotypes
Sullo, Federica
Pasquetti, Elisa
Patane, Francesca
Lo Bianco, Manuela
Marino, Simona D.
Polizzi, Agata
Falsaperla, Raffaele
Ruggieri, Martino
Zanghi, Antonio
Pratico, Andrea D.
JOURNAL OF PEDIATRIC NEUROLOGY, 2023, 21 (03) : 155 - 167
[30] SCN1A as a Candidate Gene Modifier Influencing the Severity of Epilepsy in Autosomal Dominant GRIN2A Mutation
Marafie, D. N.
Emrick, L. T.
Coorg, R. K.
Proud, M. B.
Zeller, R. S.
Clark, G. D.
ANNALS OF NEUROLOGY, 2015, 78 : S155 - S156

← 1 2 3 4 5 →