Universität zu Köln

Hofmeister, Benedikt, von Stuelpnagel, Celina, Betzler, Cornelia, Mari, Francesca ORCID: 0000-0003-1992-1654, Renieri, Alessandra ORCID: 0000-0002-0846-9220, Baldassarri, Margherita, Haberlandt, Edda, Jansen, Katrien, Schilling, Stefan, Weber, Peter, Ahlbory, Katja, Tang, Shan, Berweck, Steffen and Kluger, Gerhard (2021). Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects. Neuropediatrics, 52 (2). S. 109 - 123. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

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Abstract

Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and its treatment. Patients were recruited via Network Therapy of Rare Epilepsies (NETRE) and an international NCBRS parent support group. Inclusion criterion is NCBRS-defining SMARCA2 mutation. Clinical findings including epilepsy classification, anticonvulsive treatment, electroencephalogram (EEG) findings, and neurodevelopmental outcome were collected with an electronic questionnaire. Inclusion of 25 NCBRS patients with epilepsy in 23 of 25. Overall, 85% of the participants (17/20) reported generalized seizures, the semiology varied widely. EEG showed generalized epileptogenic abnormalities in 53% (9/17), cranial magnetic resonance imaging (cMRI) was mainly inconspicuous. The five most frequently used anticonvulsive drugs were valproic acid (VPA [12/20]), levetiracetam (LEV [12/20]), phenobarbital (PB [8/20]), topiramate (TPM [5/20]), and carbamazepine (CBZ [5/20]). LEV (9/12), PB (6/8), TPM (4/5), and VPA (9/12) reduced the seizures' frequency in more than 50%. Temporary freedom of seizures (>6 months) was reached with LEV (4/12), PB (3/8), TPM (1/5, only combined with PB and nitrazepam [NZP]), and VPA (4/12). Seizures aggravation was observed under lamotrigine (LTG [2/4]), LEV (1/12), PB (1/8), and VPA (1/12). Ketogenic diet (KD) and vagal nerve stimulation (VNS) reduced seizures' frequency in one of two each. This first worldwide retrospective analysis of anticonvulsive therapy in NCBRS helps to treat epilepsy in NCBRS that mostly shows only initial response to anticonvulsive therapy, especially with LEV and VPA, but very rarely shows complete freedom of seizures in this, rather genetic than structural epilepsy.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hofmeister, Benedikt UNSPECIFIED UNSPECIFIED UNSPECIFIED von Stuelpnagel, Celina UNSPECIFIED UNSPECIFIED UNSPECIFIED Betzler, Cornelia UNSPECIFIED UNSPECIFIED UNSPECIFIED Mari, Francesca UNSPECIFIED orcid.org/0000-0003-1992-1654 UNSPECIFIED Renieri, Alessandra UNSPECIFIED orcid.org/0000-0002-0846-9220 UNSPECIFIED Baldassarri, Margherita UNSPECIFIED UNSPECIFIED UNSPECIFIED Haberlandt, Edda UNSPECIFIED UNSPECIFIED UNSPECIFIED Jansen, Katrien UNSPECIFIED UNSPECIFIED UNSPECIFIED Schilling, Stefan UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Ahlbory, Katja UNSPECIFIED UNSPECIFIED UNSPECIFIED Tang, Shan UNSPECIFIED UNSPECIFIED UNSPECIFIED Berweck, Steffen UNSPECIFIED UNSPECIFIED UNSPECIFIED Kluger, Gerhard UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-601478
DOI:	10.1055/s-0041-1722878
Journal or Publication Title:	Neuropediatrics
Volume:	52
Number:	2
Page Range:	S. 109 - 123
Date:	2021
Publisher:	GEORG THIEME VERLAG KG
Place of Publication:	STUTTGART
ISSN:	1439-1899
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Clinical Neurology; Pediatrics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/60147