Article
Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2017
Weeke Lauren C, Brilstra Eva, Braun Kees P, Zonneveld-Huijssoon Evelien, Salomons Gajja S, Koeleman Bobby P, van Gassen Koen L, van Straaten Henrica L, Craiu Dana, de Vries Linda S
Abstract excerpt
INTRODUCTION: Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients. METHODS: Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5...
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