Axel Panzer

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Febrile infection–related epilepsy syndrome (FIRES): A nonencephalitic encephalopathy in childhood

Andreas van Baalen, Martin Häusler, Rainer Boor et al. · Epilepsia · 2010 · 235 citations

Medicine, Neurology, Pediatrics +17

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

Finbar O’Callaghan, Stuart W. Edwards, Fabienne Dietrich Alber et al. · The Lancet Child & Adolescent Health · 2018 · 165 citations · Full text

Medicine, Neurology, Pharmacotherapy +7

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher et al. · Nature Genetics · 2016 · 147 citations · Full text

Medicine, Neurology, Neuroscience +11

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Yanick J. Crow, Heather Marshall, Gillian Rice et al. · American Journal of Medical Genetics Part A · 2020 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17