5,10-Methylenetetrahydrofolate Reductase Deficiency and Myoclonic Epilepsy

J Gordon Millichap; John J Millichap

doi:10.15844/pedneurbriefs-28-9-3

5,10-Methylenetetrahydrofolate Reductase Deficiency and Myoclonic Epilepsy

Pediatric Neurology Briefs

Volume 28 (2014): Issue 9

By: J Gordon Millichap and John J Millichap

Open Access

|Sep 2014

Abstract

Investigators from the Children's Hospital of Philadelphia, PA, and McGill University, Montreal, Quebec, CA, report an adolescent learning-disabled girl who presented at age 14 years with an epilepsy syndrome initially diagnosed as juvenile myoclonic epilepsy.

References

D'Aco KE Bearden D Watkins D Hyland K Rosenblatt DS Ficicioglu C Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy Pediatr Neurol 2014 Aug 51 266 70 10.1016/j.pediatrneurol.2014.04.005 25079578
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Lossos A Teltsh O Milman T Meiner V Rozen R Leclerc D Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia JAMA Neurol 2014 Jul 1 71 7 901 4 10.1001/jamaneurol.2014.116 24797679
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Zupanc ML Legros B Progressive myoclonic epilepsy Cerebellum 2004 3 3 156 71 10.1080/14734220410035356 15543806
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Ganos C Kassavetis P Erro R Edwards MJ Rothwell J Bhatia KP The role of the cerebellum in the pathogenesis of cortical myoclonus Mov Disord 2014 Apr 29 4 437 43 10.1002/mds.25867 24634361
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-28-9-3 | Journal eISSN: 2166-6482

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Language: English

Page range: 67 - 68

Published on: Sep 1, 2014

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Dentatorubro-Pallidoluysian Atrophy,

Progressive Myoclonic Epilepsy,

Unverricht-Lundborg

© 2014 J Gordon Millichap, John J Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 28 (2014): Issue 9