SCN1A-associated epilepsy with foudroyant course: the long-term prognosis is not necessarily disastrous!

被引：0

作者：

Steinhoff, Bernhard J. ^{[1
,2
]}

Wiemer-Kruel, Adelheid ^{[1
]}

Bast, Thomas ^{[1
,2
]}

机构：

[1] Epilepsiezentrum Kork, Landstr 1, D-77694 Kehl, Germany

[2] Albert Ludwigs Univ Freiburg, Univ Klin, Freiburg, Germany

来源：

ZEITSCHRIFT FUR EPILEPTOLOGIE | 2021年 / 34卷 / 02期

关键词：

SCN1A mutation; Dravet syndrome; Spontaneous course; Symptom alteration; Classification;

D O I：

10.1007/s10309-021-00403-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The implications of a genetically substantiated Dravet syndrome (DS) in early childhood usually encompasses a highly active and drug-resistant epilepsy with intellectual disability and behavioral disorders along with a poor long-term prognosis; however, during the long-term course we certainly see patients with a spontaneous and sustained improvement even with freedom of seizures, a consecutively reduced drug load and a marked amelioration of cognitive and behavioral performance. Based on two such case reports we want to discuss and partially question the importance of syndromic diagnoses, such as DS, as the practicable foundation of forming a prognosis.

引用

页码：181 / 186

页数：6

共 15 条

[1] Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation [J].

Abou-Khalil, B ;

Ge, Q ;

Desai, R ;

Ryther, R ;

Bazyk, A ;

Bailey, R ;

Haines, JL ;

Sutcliffe, JS ;

George, AL .

NEUROLOGY, 2001, 57 (12) :2265-2272

[2] Dravet Syndrome: An Overview [J].

Anwar, Arsalan ;

Saleem, Sidra ;

Patel, Urvish K. ;

Arumaithurai, Kogulavadanan ;

Malik, Preethi .

CUREUS JOURNAL OF MEDICAL SCIENCE, 2019, 11 (06)

[3] Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations [J].

Cetica, Valentina ;

Chiari, Sara ;

Mei, Davide ;

Parrini, Elena ;

Grisotto, Laura ;

Marini, Carla ;

Pucatti, Daniela ;

Ferrari, Annarita ;

Sicca, Federico ;

Specchio, Nicola ;

Trivisano, Marina ;

Battaglia, Domenica ;

Contaldo, Ilaria ;

Zamponi, Nelia ;

Petrelli, Cristina ;

Granata, Tiziana ;

Ragona, Francesca ;

Avanzini, Giuliano ;

Guerrini, Renzo .

NEUROLOGY, 2017, 88 (11) :1037-1044

[4] De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy [J].

Claes, L ;

Del-Favero, J ;

Ceulemans, B ;

Lagae, L ;

Van Broeckhoven, C ;

De Jonghe, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1327-1332

[5] Dravet syndrome history [J].

Dravet, Charlotte .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2011, 53 :1-6

[6] Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome [J].

Hammer, Michael F. ;

Ishii, Atsushi ;

Johnstone, Laurel ;

Tchourbanov, Alexander ;

Lau, Branden ;

Sprissler, Ryan ;

Hallmark, Brian ;

Zhang, Miao ;

Zhou, Jin ;

Watkins, Joseph ;

Hirose, Shinichi .

PLOS ONE, 2017, 12 (07)

[7] Clinical implications of SCNIA missense and truncation variants in a large Japanese cohort with Dravet syndrome [J].

Ishii, Atsushi ;

Watkins, Joseph C. ;

Chen, Debbie ;

Hirose, Shinichi ;

Hammer, Michael F. .

EPILEPSIA, 2017, 58 (02) :282-290

[8] Management of Pediatric Febrile Seizures [J].

Laino, Daniela ;

Mencaroni, Elisabetta ;

Esposito, Susanna .

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, 2018, 15 (10)

[9] Genetic literacy series: genetic epilepsy with febrile seizures plus [J].

Myers, Kenneth A. ;

Scheffer, Ingrid E. ;

Berkovic, Samuel F. .

EPILEPTIC DISORDERS, 2018, 20 (04) :232-238

[10] De novo SCN1A pathogenic variants in the GEFS plus spectrum: Not always a familial syndrome [J].

Myers, Kenneth A. ;

Burgess, Rosemary ;

Afawi, Zaid ;

Damiano, John A. ;

Berkovic, Samuel F. ;

Hildebrand, Michael S. ;

Scheffer, Ingrid E. .

EPILEPSIA, 2017, 58 (02) :E26-E30

← 1 2 →