Hofmeister B(1), von Stülpnagel C(2)(3), Betzler C(2)(4), Mari F(5), Renieri A(5), Baldassarri M(5), Haberlandt E(6), Jansen K(7), Schilling S(8), Weber P(9), Ahlbory K(10), Tang S(11), Berweck S(4)(12), Kluger G(2)(4). Author information:
(1)Department of Gastroenterology, Hepatology and Gastrointestinal Oncology,
Technical University of Munich, Bogenhausen Academic Teaching Hospital, Munich,
(2)Institute for Transition, Rehabilitation and Palliation, Paracelsus Private
Medical University of Salzburg, Salzburg, Austria.
(3)Division of Pediatric Neurology, Developmental Medicine and Social
Pediatrics, Department of Pediatrics, Comprehensive Epilepsy Program for
Children, University Hospital Munich, Munich, Germany.
(4)Clinic for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center
for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany.
(5)Department of Medical Genetics, University of Siena, Sienna, Italy.
(6)Department of Pediatrics, Krankenhaus der Stadt Dornbirn, Dornbirn, Austria.
(7)Department of Development and Regeneration, University Hospitals of Leuven,
(8)Department of Neuropediatrics, Krankenhaus Barmherzige Brüder Regensburg,
(9)Department of Neuro- and Developmental Pediatrics, University Children's
Hospital Basel, Basel, Switzerland.
(10)Department of Neuropediatrics, Children's Hospital Amsterdamer Straße,
Kliniken Köln, Cologne, Germany.
(11)Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical
Neuroscience Institute, King's College London, London, United Kingdom.
(12)Department of Pediatrics, Ludwig Maximilian University of Munich, Munich,
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.
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