Universität zu Köln

Doring, Jan H., Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke G., Klabunde-Cherwon, Annick, Kluger, Gerhard, Muhle, Hiltrud, Pendziwiat, Manuela, Moller, Rikke S. ORCID: 0000-0002-9664-1448, Platzer, Konrad, Santos, Joana Larupa, Schroter, Julian, Hoffmann, Georg F., Kolker, Stefan and Syrbe, Steffen (2022). Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy. Neurol.-Genet., 8 (5). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

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Abstract

Background and Objectives Pathogenic variants in PRRT2, encoding for the proline-rich transmembrane protein 2, were identified as the main cause of self-limiting sporadic and familial infantile epilepsy. Reported data on treatment response to antiseizure medications (ASMs) in defined monogenic epilepsies are limited. The aim of this study was to evaluate the treatment response of ASMs in children with monogenic PRRT2-associated infantile epilepsy. Methods A multicenter, retrospective, cross-sectional cohort study was conducted according to the Strengthening the Reporting of Observational Studies in Epidemiology criteria. Inclusion criteria were occurrence of infantile seizures and genetic diagnosis of likely pathogenic/pathogenic PRRT2 variants. Results Treatment response data from 52 individuals with PRRT2-associated infantile epilepsy with a total of 79 treatments (defined as each use of an ASM in an individual) were analyzed. Ninety-six percent (50/52) of all individuals received ASMs. Levetiracetam (LEV), oxcarbazepine (OXC), valproate (VPA), and phenobarbital (PB) were most frequently administered. Sodium channel blockers were used in 22 individuals and resulted in seizure freedom in all but 1 child, who showed a reduction of more than 50% in seizure frequency. By contrast, treatment with LEV was associated with worsening of seizure activity in 2/25 (8%) treatments and no effect in 10/25 (40%) of treatments. LEV was rated significantly less effective also compared with VPA and PB. The retention rate for LEV was significantly lower compared with all aforementioned ASMs. No severe adverse events were reported, and no discontinuation of treatment was reported because of side effects. Discussion In conclusion, a favorable effect of most ASMs, especially sodium channel blockers such as carbamezepine and OXC, was observed, whereas the efficacy and the retention rate of LEV was lower in PRRT2-associated childhood epilepsy. Tolerability in these young children was good for all ASMs reported in the cohort.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Doring, Jan H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Saffari, Afshin UNSPECIFIED UNSPECIFIED UNSPECIFIED Bast, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Brockmann, Knut UNSPECIFIED UNSPECIFIED UNSPECIFIED Ehrhardt, Laura UNSPECIFIED UNSPECIFIED UNSPECIFIED Fazeli, Walid UNSPECIFIED UNSPECIFIED UNSPECIFIED Janzarik, Wibke G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Klabunde-Cherwon, Annick UNSPECIFIED UNSPECIFIED UNSPECIFIED Kluger, Gerhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Muhle, Hiltrud UNSPECIFIED UNSPECIFIED UNSPECIFIED Pendziwiat, Manuela UNSPECIFIED UNSPECIFIED UNSPECIFIED Moller, Rikke S. UNSPECIFIED orcid.org/0000-0002-9664-1448 UNSPECIFIED Platzer, Konrad UNSPECIFIED UNSPECIFIED UNSPECIFIED Santos, Joana Larupa UNSPECIFIED UNSPECIFIED UNSPECIFIED Schroter, Julian UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoffmann, Georg F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kolker, Stefan UNSPECIFIED UNSPECIFIED UNSPECIFIED Syrbe, Steffen UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-693556
DOI:	10.1212/NXG.0000000000200020
Journal or Publication Title:	Neurol.-Genet.
Volume:	8
Number:	5
Date:	2022
Publisher:	LIPPINCOTT WILLIAMS & WILKINS
Place of Publication:	PHILADELPHIA
ISSN:	2376-7839
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PAROXYSMAL KINESIGENIC DYSKINESIA; PRRT2; MUTATIONS; LEVETIRACETAM; GUIDELINES; PHENOTYPE; VARIANTS Multiple languages Genetics & Heredity; Clinical Neurology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69355