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1 . Academic Journal
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
저자
by
Jil D. Stegmann
;
Jeshurun C. Kalanithy
;
Gabriel C. Dworschak
;
Nina Ishorst
;
Enrico Mingardo
, et al.
소스
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Open Access (DOAJ)
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7 . Academic Journal
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate
저자
by
Francesco Miceli
;
Lidia Carotenuto
;
Vincenzo Barrese
;
Maria Virginia Soldovieri
;
Erin L. Heinzen
, et al.
소스
Frontiers in Physiology, Vol 11 (2020)
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7 .
Clinical utility of exome sequencing in a pediatric epilepsy cohort
저자
by
Jordana L. Graifman
;
Natalie C. Lippa
;
Maureen S. Mulhern
;
Amanda L. Bergner
;
Tristan T. Sands
.
소스
Epilepsia
. 64:986-997
Open Access (OpenAIRE)
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7 .
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
저자
by
Elizabeth E. Palmer
;
Michael Pusch
;
Alessandra Picollo
;
Caitlin Forwood
;
Matthew H. Nguyen
, et al.
소스
Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE
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7 .
Factors associated with long‐term outcomes in pediatric refractory status epilepticus
저자
by
Raquel Farias-Moeller
;
Ravindra Arya
;
Katrina Peariso
;
Joshua L. Goldstein
;
Eric T. Payne
, et al.
소스
Epilepsia
. 62:2190-2204
Open Access (OpenAIRE)
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7 .
CSNK2B
저자
by
Judith Bluvstein
;
Suneeta Madan-Khetarpal
;
Daniel Groepper
;
Theodore Sheehan
;
Michael J. Lyons
, et al.
소스
Epilepsia
Epilepsia, 62(7), e103-e109. Wiley-Blackwell Publishing Ltd
Epilepsia, 62(7), E103-E109. WILEY
Open Access (OpenAIRE)
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7 .
Tracking Multisite Seizure Propagation Using Ictal High-Gamma Activity
저자
by
Shraddha Srinivasan
;
Steven Tobochnik
;
Guy M. McKhann
;
Hyunmi Choi
;
Anil Mendiratta
, et al.
소스
J Clin Neurophysiol
Full Text (LWW)
Open Access (OpenAIRE)
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7 .
Somatic mutation involving diverse genes leads to a spectrum of focal cortical malformations
저자
by
Dulcie Lai
;
Meethila Gade
;
Edward Yang
;
Hyun Yong Koh
;
Nicole M. Walley
, et al.
소스
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7 .
Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures
저자
by
Adam L. Numis
;
Valeria Morabito
;
Hannah C. Glass
;
Tristan T. Sands
;
Susana Ferrao Santos
, et al.
소스
Epilepsia, vol 62, iss 8
Epilepsia, Vol. 62, no. 8, p. 1907-1920 (2021)
Open Access (OpenAIRE)
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7 .
Benzodiazepine administration patterns before escalation to second-line medications in pediatric refractory convulsive status epilepticus
저자
by
Adam P. Ostendorf
;
Linda Huh
;
Raquel Farias-Moeller
;
Edward J. Novotny
;
Bo Zhang
, et al.
소스
Epilepsia
. 62(11)
Open Access (OpenAIRE)
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