Associated Papers
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
Bendas Feres Lima I et al.
Molecular Cytogenetics, 2024
A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent.
Boonsimma P et al.
Brain & Development, 2020
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
Hernandez CC et al.
Brain : a Journal of Neurology, 2019
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