Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet-Reference-Cited by-同舟云学术

Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet

Published:2021-06-04 Issue: Volume: Page:
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Papadopoulou Maria T.¹^ORCID,Dalpa Efterpi¹,Portokalas Michalis¹,Katsanika Irene²,Tirothoulaki Katerina²,Spilioti Martha³,Gerou Spyros⁴,Plecko Barbara⁵,Evangeliou Athanasios E.¹

Affiliation:

1. Division of Child Neurology and Inherited Metabolic Diseases, 4th Department of Pediatrics Aristotle University of Thessaloniki, ‘Papageorgiou’ General Hospital Thessaloniki Greece

2. Diet & Nutrition Department ‘Papageorgiou’ General Hospital Thessaloniki Greece

3. 1st Department of Neurology Aristotle University of Thessaloniki, ‘AHEPA’ Hospital Thessaloniki Greece

4. Analysis Medical SA Thessaloniki Greece

5. Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics Medical University of Graz Graz Austria

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12206

Reference16 articles.

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3. Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5‐methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution;Ramaekers VT;Neuropediatrics,2002

4. Clinical recognition and aspects of the cerebral folate deficiency syndromes;Ramaekers V;Clin Chem Lab Med,2013

5. Cerebral folate deficiency: analytical tests and differential diagnosis;Pope S;J Inherit Metab Dis,2019

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2. Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature;Orphanet Journal of Rare Diseases;2023-07-13

3. Cerebral folate deficiency: A report of two affected siblings;Molecular Genetics and Metabolism Reports;2023-06

4. Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder;Neurological Sciences;2023-02-28

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