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Jean-Michel Pedespan

Boston Children's Hospital

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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

2020 European Journal of Paediatric Neurology
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Slow titration of Cannabidiol add-on in drug resistant epilepsies can improve safety with maintained efficacy in an open label study

2020 Frontiers in Neurology
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A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

2020 European Journal of Medical Genetics
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Dissociation in reactive and proactive inhibitory control in Myoclonus dystonia.

2020 Scientific Reports
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Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome

2020 Journal of Medical Genetics
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Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

2020 Neuropediatrics
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Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures

2019 Epilepsia
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Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge–Weber syndrome

2019 Developmental Medicine & Child Neurology
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Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients

2019
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Delineating the phenotypic spectrum of FOXG1 syndrome: from congenital microcephaly to hyperkinetic encephalopathy.

2018 Neurology Genetics
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