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ebooks
In the Dark Spaces. [electronic resource]
Author / Creator:Black, Cally.
Publisher:Richmond : Hardie Grant Egmont Pty, Limited, 2017.
Date: 2017.
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Books
Dee Why to Barrenjoey and Pittwater / by Charles Swancott.
Author / Creator:Swancott, Charles.
Publisher:[Woy Woy, N.S.W., : the Author, 1967] (Sydney : D.S. Ford.)
Date:1967]
Call Numbers:991.1/78A2 , N994.4/87 , 991.1/78A1 , E994.4/SWA
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ArticlesPeer ReviewedFull Text
ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype
Author / Creator:Ferrara, Giusi ; Cutillo, Gianni ; Peterlongo, Irene ; Minacapilli, Eleonora ; Iascone, Maria ; Veggiotti, Pierangelo ; Fiocchi, Isabella
Publisher:Oxford: John Wiley & Sons, Inc
Journal title:Annals of the Child Neurology Society, 2024-03, Vol.2 (1), p.73-78
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ArticlesPeer ReviewedFull Text
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep
Author / Creator:Licchetta, Laura ; Di Giorgi, Lucia ; Santucci, Margherita ; Taruffi, Lisa ; Stipa, Carlotta ; Minardi, Raffaella ; Carelli, Valerio ; Bisulli, Francesca
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2311-n/a
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Newsletter articlesFull Text
Charite - University Medicine Berlin Reports Findings in Central Nervous System Agents (Primidone improves symptoms in TRPM3-linked DEE-SWAS)
Publisher:NewsRX LLC
Journal title:Pediatrics Week, 2023, p.99
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ArticlesPeer ReviewedFull Text
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort
Author / Creator:Türkyılmaz, Ayberk ; Sağer, Safiye Güneş ; Tekin, Emine ; Teralı, Kerem ; Düzkalır, Hanife ; Eser, Metin ; Akın, Yasemin
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2024-04, Vol.25 (2), p.119-130
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ArticlesPeer ReviewedFull Text
European experience of steroid therapy in children with developmental and epileptic encephalopathy with spike wave activation in sleep ((D)EE-SWAS)
Author / Creator:Canbay, Dilan ; Jansen, Floor E. ; Schönberger, Jan ; San Antonio-Arce, Victoria ; Jacobs, Julia ; Klotz, Kerstin Alexandra
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2025-04, Vol.20 (1), p.204-8, Article 204
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ArticlesPeer ReviewedFull Text
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies
Author / Creator:Barcia, Giulia ; Chemaly, Nicole ; Gobin‐Limballe, Stéphanie ; Losito, Emma ; Aubart, Mélodie ; Sarda, Eugénie ; Assouline, Zahra ; Plante‐Bordeneuve, Pauline ; Hully, Marie ; Barrois, Remi ; Barnerias, Christine ; Sareidaki, Doxa ; Zeitoun, Delphine Coste ; Eisermann, Monika ; Fourrage, Cécile ; Hanein, Sylvain ; Rio, Marlène ; Boddaert, Nathalie ; Desguerre, Isabelle ; Kaminska, Anna ; Steffann, Julie ; Nabbout, Rima
Publisher:United States
Journal title:Epilepsia open, 2025-05
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ArticlesPeer ReviewedFull Text
Successful Treatment of a Child With Epileptic Encephalopathy With Spike-Wave Activation in Sleep and GRIN2A Variant Using Sulthiame
Author / Creator:Pereira-Nunes, Joana ; Sousa, José Maria ; Fonseca, Jacinta ; Melo, Cláudia ; Alves, Dílio ; Sampaio, Mafalda ; Sousa, Raquel
Publisher:United States: Springer Nature B.V
Journal title:Cureus, 2023-02, Vol.15 (2), p.e34686-e34686
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ArticlesPeer ReviewedFull Text
European experience of steroid therapy in children with developmental and epileptic encephalopathy with spike wave activation in sleep
Author / Creator:Canbay, Dilan ; Jansen, Floor E ; Schönberger, Jan ; San Antonio-Arce, Victoria ; Jacobs, Julia ; Klotz, Kerstin Alexandra
Publisher:BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-04, Vol.20 (1)
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ArticlesFull Text
Multiple drugs: Lack of efficacy and rash: 4 case reports
Publisher:Auckland: Springer Nature B.V
Journal title:Reactions weekly, 2023-01 (1938), p.910-910
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In the Dark Spaces. [electronic resource]

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Dee Why to Barrenjoey and Pittwater / by Charles Swancott.

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ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype

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Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep

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Charite - University Medicine Berlin Reports Findings in Central Nervous System Agents (Primidone improves symptoms in TRPM3-linked DEE-SWAS)

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Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort

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European experience of steroid therapy in children with developmental and epileptic encephalopathy with spike wave activation in sleep ((D)EE-SWAS)

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Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

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Successful Treatment of a Child With Epileptic Encephalopathy With Spike-Wave Activation in Sleep and GRIN2A Variant Using Sulthiame

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European experience of steroid therapy in children with developmental and epileptic encephalopathy with spike wave activation in sleep

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Multiple drugs: Lack of efficacy and rash: 4 case reports

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