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Publications

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Melatonin in neuropaediatric MRI: a retrospective study of efficacy in a general hospital setting

A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

GRIN2A-related disorders: genotype and functional consequence predict phenotype

Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia

The neurological phenotype of developmental motor patterns during early childhood

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)

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