Treatable neonatal epilepsy

Surtees, Robert; Wolf, Nicole
August 2007
Archives of Disease in Childhood;Aug2007, Vol. 92 Issue 8, p659
Academic Journal
The article offers information on the treatable metabolic causes of neonatal epilepsy. These disorders include pyridoxine-dependent epilepsy (PDE), pyridox(am)ine phosphate oxidase deficiency (PNPO), and folinic acid-responsive seizures. The investigation and treatment of these metabolic causes are summarized in a table offered in the article. The possible approaches to diagnosing treatable neonatal epilepsies include giving the relevant vitamins and investigating biochemical markers for each condition.


Related Articles

  • Vitamin B6 Dependent Seizures. Plecko, Barbara; Stöckler, Sylvia // Canadian Journal of Neurological Sciences;Aug2009 Supplement 2, Vol. 36, pS73 

    Vitamin B6 is an abundant cofactor in aminoacid- and neurotransmitter metabolism. Physiologic availability depends on dietary supply, intact absorption and conversion of pyridoxamine and pyridoxine into the only active cofactor, pyridoxal-5'-phosphate (PLP) in liver. By now we know of four...

  • Pyridoxine.  // Reactions Weekly;6/19/2010, Issue 1306, p32 

    The article describes a case of prolonged electrocerebral suppression in a 5-month-old boy after receiving pyridoxine for epilepsy.

  • Clinical Diagnosis, Treatment, and ALDH7A1 Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants. Yang, Zhixian; Yang, Xiaoling; Wu, Ye; Wang, Jingmin; Zhang, Yuehua; Xiong, Hui; Jiang, Yuwu; Qin, Jiong // PLoS ONE;Mar2014, Vol. 9 Issue 3, p1 

    Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease. Three Chinese children with PDE were clinically analyzed, followed...

  • Focal Status Epilepticus as Atypical Presentation of Pyridoxine-Dependent Epilepsy. Yoshli, Aidra; Takeoka, Masanori; Kelly, Peter J.; Krishnamoorthy, Kalpathy S. // Journal of Child Neurology;Aug2005, Vol. 20 Issue 8, p696 

    Pyridoxine-dependent epilepsy usually presents in the neonatal period or even in utero, is refractory to antiepileptic medications, and is treatable with lifelong administration of pyridoxine. The seizures are typically generalized tonic-clonic, although myoclonic seizures or infantile spasms...

  • Aromatic L-Amino acid decarboxylase deficiency : A new case from Turkey with a novel mutation. Gücüyener, Kıvılcım; Kasapkara, Çiğdem Seher; Tümer, Leyla; Verbeek, Marcel M. // Annals of Indian Academy of Neurology;Apr2014, Vol. 17 Issue 2, p234 

    Aromatic L-amino acid decarboxylase (AADC), a vitamin B6-requiring enzyme that converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Deficiency of this enzyme results in developmental delay, muscular hypotonia, dystonia, involuntary movements, autonomic dysfunction, and oculogyric...

  • PYRIDOXINE. TATUM IV, WILLIAM O.; KAPLAN, PETER W.; PIERRE, JALLON // Epilepsy A to Z: A Concise Encyclopedia;2009, p279 

    A encyclopedia entry for "Pyridoxine" is presented. There are two types of pyridoxine that are related to seizures occurring in the neonatal period and these are pyridoxine dependency and pyridoxine deficiency. Both conditions may result to neurocognitive damage and deterioration without...

  • Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India. Surekha, Bangal; Akshay, Bhandari; Priyanka, Dhaytadak; Pratik, Gogri // Australasian Medical Journal;2012, Vol. 5 Issue 12, p639 

    Gyrate atrophy is a rare metabolic disease with autosomal recessive inheritance pattern characterised by hyperornithinemia and typical ocular findings. This report presents a 17-year-old intellectually challenged girl consulting for a progressive fall of visual acuity with night blindness....

  • Pyridoxine dependent and pyridoxine responsive seizures. Hindley, D.; Huyton, M. // Archives of Disease in Childhood;Jan2001, Vol. 84 Issue 1, p91 

    Presents a letter to the editor about pyridoxine dependent and pyridoxine responsive seizures, published in the journal "Archives of Disease in Childhood" as of January 2001.

  • Pyridoxine.  // Reactions Weekly;7/21/2012, Issue 1411, p37 

    The article mentions a case report of a neonate who developed encephalopathy and status epilepticus due to pyridoxine toxicity.


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics