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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., Competing Interests: None declared., (Thieme. All rights reserved.)

pLT is a highly standardized therapy for children with end‐stage liver disease and liver‐based metabolic diseases. However, NCs after transplantation occur and especially younger children are considered as more vulnerable and susceptible to NCs. Up to now, detailed data particularly for the very young age group do not exist. We therefore retrospectively studied NCs in children after pLT under age of 24 months. Forty children aged between 19 days and 22 months were evaluated according to type of NC and potential risk factors. NCs occurred in 8/40 patients (20%). All experienced new‐onset seizures and in 1/6 surviving patients, seizures evolved into epilepsy. Other NCs were intracerebral abscess (1/8 patients) and subdural hemorrhage (1/8 patients). The overall 3‐year mortality rate was 10% (4/40 patients). Significant risk factors for NCs and therefore seizures were HAT (P = 0.020), total surgery time (P = 0.009), retransplantation (P < 0.001), period of catecholamine therapy (P = 0.024), period of mechanical ventilation (P = 0.014), and period of sedation (P = 0.010). Our study is the first to provide detailed information on NCs after pLT in children under 24 months of age. The incidence of NCs in this particular group of very young patients was not increased compared to previously published data of children of all ages. Main NC was new‐onset seizure. In the surviving infants, prognosis of seizure was excellent and the risk of developing epilepsy was low. Even more, the occurrence of NCs did not significantly affect mortality or survival in this particular age group. [ABSTRACT FROM AUTHOR]