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1 . Periodical
Current practice in diagnostic genetic testing of the epilepsies
저자
by
Krey, Ilona
;
Platzer, Konrad
;
Esterhuizen, Alina
;
Berkovic, Samuel F.
;
Helbig, Ingo
, et al.
소스
Epileptic Disorders; October 2022, Vol. 24 Issue: 5 p765-786, 22p
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7 . Academic Journal
Mortality in Dravet syndrome
저자
by
Cooper, Monica S.
;
Mcintosh, Anne
;
Crompton, Douglas E.
;
McMahon, Jacinta M.
;
Schneider, Amy
, et al.
소스
In
Epilepsy Research
December 2016 128:43-47
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7 . Periodical
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity
저자
by
Kolc, Kristy
;
Sadleir, Lynette
;
Scheffer, Ingrid
;
Ivancevic, Atma
;
Roberts, Rachel
, et al.
소스
Molecular Psychiatry; February 2019, Vol. 24 Issue: 2 p241-251, 11p
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7 . Periodical
Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial
저자
by
O'Callaghan, Finbar J K
;
Edwards, Stuart W
;
Alber, Fabienne Dietrich
;
Cortina Borja, Mario
;
Hancock, Eleanor
, et al.
소스
The Lancet Child & Adolescent Health; October 2018, Vol. 2 Issue: 10 p715-725, 11p
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7 . Academic Journal
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency
저자
by
Tan, Chuan
;
Shard, Chloe
;
Ranieri, Enzo
;
Hynes, Kim
;
Pham, Duyen H.
, et al.
소스
Human Molecular Genetics
. Sep 15, 2015 24(18):5250-5259
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7 . Academic Journal
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
저자
by
Chuan Tan
;
Shard, Chloe
;
Ranieri, Enzo
;
Hynes, Kim
;
Pham, Duyen H.
, et al.
소스
Human Molecular Genetics; 9/15/2015, Vol. 24 Issue 18, p5250-5259, 10p
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7 . Academic Journal
Quality of Life and Qualitative Caregiver Assessments in Children and Adolescents with Developmental and Epileptic Encephalopathies Treated with Cannabidiol Transdermal Gel: An Open-label Clinical Trial
저자
by
Sadleir, Lynette
;
Hulihan, Joseph
;
Messenheimer, John
;
Ali, Shayma
;
Gutterman, Donna
, et al.
소스
NEUROLOGY
; APR 14 2020, 94 15, 4p. Supplement: S
Full Text (LWW)
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7 . Academic Journal
Cannabidiol Transdermal Gel in Children and Adolescents with Developmental and Epileptic Encephalopathies: An Open-label Clinical Trial
저자
by
Scheffer, Ingrid
;
Hulihan, Joseph
;
Messenheimer, John
;
Ali, Shayma
;
Davis, Suzanne
, et al.
소스
NEUROLOGY
; APR 14 2020, 94 15, 4p. Supplement: S
Full Text (LWW)
Scopus
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7 . Periodical
GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
저자
by
Platzer, Konrad
;
Yuan, Hongjie
;
Schutz, Hannah
;
Winschel, Alexander
;
Chen, Wenjuan
, et al.
소스
Journal of Medical Genetics (JMG); 2017, Vol. 54 Issue: 7 p460-470, 11p
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7 . Academic Journal
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome
저자
by
Mulley, John C.
;
Hodgson, Bree
;
McMahon, Jacinta M.
;
Iona, Xenia
;
Bellows, Susannah
, et al.
소스
Epilepsia
. Sep 01, 2013 54(9):e122-e126
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