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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

Chloé Di Meglio 1 Gaetan Lesca 2, 3 Nathalie Villeneuve 1 Caroline Lacoste 3, 4 Affef Abidi 3 Pierre Cacciagli 3, 4 Cécilia Altuzarra 5 Agathe Roubertie 6, 7 Alexandra Afenjar 8 Florence Renaldo-Robin 8 Bertrand Isidor 9 Agnès Gautier 10 Marie Husson 11 Claude Cances 12 Julia Metreau 13 Cécile Laroche 14 Mondher Chouchane 15 Dorothée Ville 16 Stéphanie Marignier 16 Christelle Rougeot 17 Marine Lebrun 18 Anne de Saint Martin 19 Alexandra Perez 19 Audrey Riquet 20 Catherine Badens 3, 4, 21 Chantal Missirian 4 Nicole Philip 4, 3 Brigitte Chabrol 1, 3 Laurent Villard 3 Mathieu Milh 1, 3
1 Service de pédiatrie et neurologie pédiatrique
2 CRNL - Centre de recherche en neurosciences de Lyon
3 GMGF - Génétique Médicale et Génomique Fonctionnelle
4 Département de génétique médicale [Hôpital de la Timone - APHM]
5 Service de pédiatrie [CHRU Besançon]
6 CHU - Hôpital Lapeyronie [Montpellier]
7 INM - Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs
8 Service de Neuropédiatrie [CHU Trousseau]
9 Service de génétique médicale - Unité de génétique clinique [Nantes]
10 CHU Nantes - Centre hospitalier universitaire de Nantes
11 CHU Bordeaux [Bordeaux]
12 CHU Toulouse [Toulouse]
13 AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)
14 Service de Pédiatrie médicale [CHU Limoges]
15 Service de pédiatrie (CHU de Dijon)
16 Hôpital Louis Pradel [CHU - HCL]
17 HFME - Hôpital Femme Mère Enfant [CHU - HCL]
18 CHU de Saint-Etienne - Centre Hospitalier Universitaire de Saint-Etienne
19 Hôpital de Hautepierre [Strasbourg]
20 Service de Neuro-pédiatrie[Lille]
21 Centre de référence maladie rare Thalassémie
Abstract : Objective: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome , with a mutation detection rate of approximately 10%, depending on the criteria of selection of patients. The aim of this study was to retrospectively describe clinical and electroencephalography (EEG) features associated with STXBP1-related epilepsies to orient molecular screening. Methods: We screened STXBP1 in a cohort of 284 patients with epilepsy associated with a developmental delay/intellectual disability and brain magnetic resonance imaging (MRI) without any obvious structural abnormality. We reported on patients with a mutation and a microdeletion involving STXBP1 found using array comparative geno-mic hybridization (CGH). Results: We found a mutation of STXBP1 in 22 patients and included 2 additional patients with a deletion including STXBP1. In 22 of them, epilepsy onset was before 3 months of age. EEG at onset was abnormal in all patients, suppression-burst and multifocal abnormalities being the most common patterns. The rate of patients carrying a mutation ranged from 25% in Ohtahara syndrome to <5% in patients with an epilepsy beginning after 3 months of age. Epilepsy improved over time for most patients, with an evolution to West syndrome in half. Patients had moderate to severe developmental delay with normal head growth. Cerebellar syndrome with ataxic gait and/or tremor was present in 60%.
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UNIV-AMU | CNRS | UNIV-NANTES | MMG | UNIV-LYON1 | UNIV-ST-ETIENNE | BS | UNIV-MONTPELLIER | HCL | PHARMA-AMU | UDL

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Chloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, et al.. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. Epilepsia, Wiley, 2015, 56 (12), pp.1931-1940. ⟨10.1111/epi.13214⟩. ⟨hal-01664313⟩

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