Clinical and electroencephalographic effects of folinic acid treatment in rett syndrome patients

Journal of Child Neurology

Volumn 26, Issue 6, 2011, Pages 718-723

  Hagebeuk, Eveline E O ^a   Koelman, Johannes H T M ^a   Duran, Marinus ^a   Abeling, Nico G ^a   Vyth, Arno ^a   Poll The, Bwee Tien ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

double blind; electroencephalography; epilepsy; folate; folinic acid; placebo controlled study; Rett syndrome; seizures

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; CYANOCOBALAMIN; ETIRACETAM; FOLINATE CALCIUM; FOLINIC ACID; LAMOTRIGINE; OXCARBAZEPINE; PHENOBARBITAL; PLACEBO; TOPIRAMATE; VALPROIC ACID;

ABSENCE; ADD ON THERAPY; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPLEX PARTIAL SEIZURE; CONTROLLED STUDY; CROSSOVER PROCEDURE; DISEASE SEVERITY; DOUBLE BLIND PROCEDURE; DRUG EFFICACY; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; FEMALE; FOLLOW UP; HUMAN; MYOCLONUS SEIZURE; PRESCHOOL CHILD; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; RETT SYNDROME; SCHOOL CHILD; TONIC CLONIC SEIZURE; TONIC SEIZURE; TREATMENT RESPONSE;

BRAIN WAVES; CHILD; CHILD, PRESCHOOL; CROSS-OVER STUDIES; DOUBLE-BLIND METHOD; ELECTROENCEPHALOGRAPHY; FEMALE; FOLLOW-UP STUDIES; HUMANS; LEUCOVORIN; MALE; RETT SYNDROME; SEIZURES; SEVERITY OF ILLNESS INDEX; SPECTRUM ANALYSIS;

EID: 79957583477     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810390037     Document Type: Article

References (16)

1. Cass H., Reilly S., Owen L., et al. Findings from a multidisciplinary clinical case series of females with Rett syndrome. Dev Med Child Neurol. 2003 ; 45: 325-337. (Pubitemid 36469392)
2. Hagberg B., Hanefeld F., Percy A., Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Eur J Paediatr Neurol. 2002 ; 6: 293-297.
3. Amir RE, Van den Veyver IB, Wan M., et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methylCpG-binding protein 2. Nat Genet. 1999 ; 23: 185-188. (Pubitemid 29455390)
4. Neul JL, Fang P., Barrish J., et al. Specific mutations in methylCpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008 ; 70: 1313-1321. (Pubitemid 351550354)
5. Jian L., Nagarajan L., Klerk de N., et al. Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol. 2007 ; 11: 310-317. (Pubitemid 47194449)
6. Glaze DG, Percy AK, Skinner S., et al. Epilepsy and the natural history of Rett syndrome. Neurology. 2010 ; 74: 909-912.
7. Glaze DG, Schultz RJ, Frost JD Rett syndrome: characterization of seizures versus non seizures. Electroencephalogr Clin Neurophysiol. 1998 ; 106: 79-83. (Pubitemid 28079016)
8. Ramaekers VT, Hansen SI, Holm J., et al. Reduced folate transport to the CNS in female Rett syndrome patients. Neurology. 2003 ; 61: 506-515. (Pubitemid 37025368)
9. Neul JL, Maricich SM, Islam M., et al. Spinal fluid 5 methyltetrahydrofolate levels are normal in Rett syndrome. Neurology. 2005 ; 64: 2151-2152. (Pubitemid 40881017)
10. Ormazabal A., Artuch R., Vilaseca MA, et al. Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid. Neuropediatrics. 2005 ; 36: 380-385. (Pubitemid 43162349)
11. Temudo T., Rios M., Prior C., et al. Evaluation of CSF neurotransmitters and folate in 25 patients with Rett syndrome disorder and effects of treatment. Brain Dev. 2009 ; 31: 46-51.
12. Schanen C., Houwink EJF, Dorrani N., et al. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet A. 2004 ; 126A: 129-140. (Pubitemid 38445468)
13. Dijk van JG EEG for the neurologist. Terminology of the EEG: [Dutch]. 2008 ; 2: 45.
14. Ramaekers VT, Blau N., Sequeira JM, et al. Folate receptor autoimmunity and cerebral folate deficiency in low functioning autism with neurological deficits. Neuropediatrics. 2007 ; 38: 276-281. (Pubitemid 351737986)
15. Garzia-Cazorla A., Quadros EV, Nascimento A., et al. Mitochondrial diseases associated with cerebral folate deficiency. Neurology. 2008 ; 70: 1360-1362. (Pubitemid 351550342)
16. Bahi-Buisson N., Guellec I., Nabbout R., et al. Parental view of epilepsy in Rett syndrome. Brain Dev. 2008 ; 30: 126-130.