Epilepsy in Nicolaides–Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects

Benedikt Hofmeister; Celina von Stülpnagel; Cornelia Betzler; Francesca Mari; Alessandra Renieri; Margherita Baldassarri; Edda Haberlandt; Katrien Jansen; Stefan Schilling; Peter Weber; Katja Ahlbory; Shan Tang; Steffen Berweck; Gerhard Kluger

doi:10.1055/s-0041-1722878

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics 2021; 52(02): 109-122
DOI: 10.1055/s-0041-1722878

Original Article

Epilepsy in Nicolaides–Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects

Benedikt Hofmeister

¹Department of Gastroenterology, Hepatology and Gastrointestinal Oncology, Technical University of Munich, Bogenhausen Academic Teaching Hospital, Munich, Germany

,

Celina von Stülpnagel

²Institute for Transition, Rehabilitation and Palliation, Paracelsus Private Medical University of Salzburg, Salzburg, Austria

³Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Comprehensive Epilepsy Program for Children, University Hospital Munich, Munich, Germany

,

Cornelia Betzler

²Institute for Transition, Rehabilitation and Palliation, Paracelsus Private Medical University of Salzburg, Salzburg, Austria

⁴Clinic for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany

,

Francesca Mari

⁵Department of Medical Genetics, University of Siena, Sienna, Italy

,

Alessandra Renieri

⁵Department of Medical Genetics, University of Siena, Sienna, Italy

,

Margherita Baldassarri

⁵Department of Medical Genetics, University of Siena, Sienna, Italy

,

Edda Haberlandt

⁶Department of Pediatrics, Krankenhaus der Stadt Dornbirn, Dornbirn, Austria

,

Katrien Jansen

⁷Department of Development and Regeneration, University Hospitals of Leuven, Leuven, Belgium

,

Stefan Schilling

⁸Department of Neuropediatrics, Krankenhaus Barmherzige Brüder Regensburg, Regensburg, Germany

,

Peter Weber

⁹Department of Neuro- and Developmental Pediatrics, University Children’s Hospital Basel, Basel, Switzerland

,

Katja Ahlbory

¹⁰Department of Neuropediatrics, Children’s Hospital Amsterdamer Straße, Kliniken Köln, Cologne, Germany

,

Shan Tang

¹¹Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom

,

Steffen Berweck

⁴Clinic for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany

¹²Department of Pediatrics, Ludwig Maximilian University of Munich, Munich, Germany

,

Gerhard Kluger

²Institute for Transition, Rehabilitation and Palliation, Paracelsus Private Medical University of Salzburg, Salzburg, Austria

⁴Clinic for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany

› Institutsangaben

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.

Keywords

Nicolaides–Baraitser syndrome - NCBRS - SMARCA2 - epilepsy - AED

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Referenzen

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