Universität zu Köln

Bamborschke, Daniel, Pergande, Matthias, Daimagueler, Huelya Sevcan, Mangold, Elisabeth, Doetsch, Joerg, Herkenrath, Peter, Cirak, Sebahattin and Fazeli, Walid (2019). Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy. Neuropediatrics, 50 (6). S. 378 - 382. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

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Abstract

Mutations in GABA (A) -receptor subunit genes are associated with a heterogeneous spectrum of epilepsies. Patients with epilepsy caused by mutations in a specific GABA (A) -receptor ( GABRA3 ) occasionally present with orofacial dysmorphism (e.g., cleft palates). While cleft palates have been described in Gabrb3 knockout mice and in humans with GABRB3 variants without epilepsy, the specific combination of epilepsy and cleft palate in humans with GABRB3 mutations has not yet been reported. We describe a patient with epileptic encephalopathy (EE) who presented with therapy-refractory neonatal-onset myoclonic seizures and severe developmental delay. Electroencephalogram showed burst suppression pattern at neonatal age and hypsarrhythmia at infantile age. Initial magnetic resonance imaging was unremarkable. As he additionally presented with a cleft palate, we were curious whether cleft palate and EE had the same genetic origin. Whole exome sequencing of the index patient revealed a novel pathogenic heterozygous de novo mutation in GABRB3 ( c.899T > C; p.I300T). In consistency with Gabrb3 knockout mice data, this is the first report of cleft palate in a patient with GABRB3 associated EE. We suggest to add cleft palate to the phenotypic GABRB3 spectrum and to screen for mutations in GABA (A) -receptors in patients with EE and orofacial dysmorphism.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Bamborschke, Daniel UNSPECIFIED UNSPECIFIED UNSPECIFIED Pergande, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Daimagueler, Huelya Sevcan UNSPECIFIED UNSPECIFIED UNSPECIFIED Mangold, Elisabeth UNSPECIFIED UNSPECIFIED UNSPECIFIED Doetsch, Joerg UNSPECIFIED UNSPECIFIED UNSPECIFIED Herkenrath, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED Fazeli, Walid UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-126417
DOI:	10.1055/s-0039-1693143
Journal or Publication Title:	Neuropediatrics
Volume:	50
Number:	6
Page Range:	S. 378 - 382
Date:	2019
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 BETA-3 SUBUNIT; SEIZURES; GENETICS; LIP; ASSOCIATION; VARIANTS Multiple languages Clinical Neurology; Pediatrics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/12641