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Folinic acid-responsive seizures

MedGen UID:
908191
•Concept ID:
C4273952
•
Disease or Syndrome
Synonyms: Folinic acid responsive seizure syndrome; Folinic acid responsive seizures; folinic acid-responsive seizures
SNOMED CT: Folinic acid responsive seizure syndrome (717276003); Folinic acid responsive seizures (717276003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019197
Orphanet: ORPHA79097

Definition

A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFolinic acid-responsive seizures

Professional guidelines

PubMed

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24 doi: 10.1016/j.ymgme.2011.05.014. PMID: 21704546

Recent clinical studies

Etiology

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24 doi: 10.1016/j.ymgme.2011.05.014. PMID: 21704546
Folate-responsive neurologic diseases.
Djukic A
Pediatr Neurol 2007 Dec;37(6):387-97. doi: 10.1016/j.pediatrneurol.2007.09.001. PMID: 18021918

Diagnosis

Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.
Tso WW, Kwong AK, Fung CW, Wong VC
Pediatr Neurol 2014 Feb;50(2):177-80. Epub 2013 Oct 24 doi: 10.1016/j.pediatrneurol.2013.10.006. PMID: 24315539
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24 doi: 10.1016/j.ymgme.2011.05.014. PMID: 21704546
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C
Ann Neurol 2009 May;65(5):550-6. doi: 10.1002/ana.21568. PMID: 19142996
Folate-responsive neurologic diseases.
Djukic A
Pediatr Neurol 2007 Dec;37(6):387-97. doi: 10.1016/j.pediatrneurol.2007.09.001. PMID: 18021918
Clinical approach to inherited metabolic disorders in neonates: an overview.
Saudubray JM, Nassogne MC, de Lonlay P, Touati G
Semin Neonatol 2002 Feb;7(1):3-15. doi: 10.1053/siny.2001.0083. PMID: 12069534

Therapy

Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures.
Al-Baradie RS, Chaudhary MW
Neurosciences (Riyadh) 2014 Oct;19(4):312-6. PMID: 25274592Free PMC Article
Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.
Tso WW, Kwong AK, Fung CW, Wong VC
Pediatr Neurol 2014 Feb;50(2):177-80. Epub 2013 Oct 24 doi: 10.1016/j.pediatrneurol.2013.10.006. PMID: 24315539
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24 doi: 10.1016/j.ymgme.2011.05.014. PMID: 21704546
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C
Ann Neurol 2009 May;65(5):550-6. doi: 10.1002/ana.21568. PMID: 19142996
Folate-responsive neurologic diseases.
Djukic A
Pediatr Neurol 2007 Dec;37(6):387-97. doi: 10.1016/j.pediatrneurol.2007.09.001. PMID: 18021918

Prognosis

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24 doi: 10.1016/j.ymgme.2011.05.014. PMID: 21704546
Clinical approach to inherited metabolic disorders in neonates: an overview.
Saudubray JM, Nassogne MC, de Lonlay P, Touati G
Semin Neonatol 2002 Feb;7(1):3-15. doi: 10.1053/siny.2001.0083. PMID: 12069534
Cerebrospinal fluid investigations for neurometabolic disorders.
Hoffmann GF, Surtees RA, Wevers RA
Neuropediatrics 1998 Apr;29(2):59-71. doi: 10.1055/s-2007-973538. PMID: 9638660
Folinic acid responsive seizures: a new syndrome?
Hyland K, Buist NR, Powell BR, Hoffman GF, Rating D, McGrath J, Acworth IN
J Inherit Metab Dis 1995;18(2):177-81. doi: 10.1007/BF00711760. PMID: 7564240

Clinical prediction guides

Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity.
Brocker C, Cantore M, Failli P, Vasiliou V
Chem Biol Interact 2011 May 30;191(1-3):269-77. Epub 2011 Feb 19 doi: 10.1016/j.cbi.2011.02.016. PMID: 21338592Free PMC Article
Clinical approach to inherited metabolic disorders in neonates: an overview.
Saudubray JM, Nassogne MC, de Lonlay P, Touati G
Semin Neonatol 2002 Feb;7(1):3-15. doi: 10.1053/siny.2001.0083. PMID: 12069534

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