A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation
Esra Sarıgeçili, Fatma Derya Bulut, Özlem Anlaş
Topics & Concepts
MicrocephalyCorpus callosumEpilepsyMedicineGlobal developmental delayExome sequencingMutationExonSerineNeuroscienceGeneticsGeneBioinformaticsPathologyBiologyPediatricsPsychiatryPhosphorylationPhenotypeAmino Acid Enzymes and MetabolismMetabolism and Genetic DisordersGenomics and Rare Diseases