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Developmental Medicine and Child Neurology|July 19, 2012
Long-term outcome in pyridoxine-dependent epilepsyLevinus A Bok, Feico J Halbertsma, Saskia Houterman, et al.
European Journal of Human Genetics : EJHG|August 14, 2014
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literatureMerel Klaassens, Deborah Morrogh, Elisabeth M Rosser, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 24, 2007
Extensive cerebral infarction in the newborn due to incontinentia pigmentiFemke Maingay-de Groof, Maarten H Lequin, Daniella W Roofthooft, et al.
Journal of Inherited Metabolic Disease|June 26, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathiesDéborah Mathis, Lucia Abela, Monique Albersen, et al.
Epilepsia|October 5, 2010
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsyLevinus A Bok, Natasha M Maurits, Michèl A Willemsen, et al.
American Journal of Medical Genetics. Part A|November 13, 2021
Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter studyEmma N M M von Scheibler, Emy S van der Valk Bouman, Myrthe A Nuijts, et al.
Molecular Genetics and Metabolism|March 13, 2022
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsyLaura A Tseng, Jose E Abdenur, Ashley Andrews, et al.
Molecular Genetics and Metabolism|October 2, 2012
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trialsClara D M van Karnebeek, Hans Hartmann, Sravan Jaggumantri, et al.
Elife|July 12, 2017
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairmentCemre Celen, Jen-Chieh Chuang, Xin Luo, et al.
Plos Genetics|October 26, 2017
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorderTom S Koemans, Tjitske Kleefstra, Melissa C Chubak, et al.
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