Literature DB >> 26234933

Treatable newborn and infant seizures due to inborn errors of metabolism.

Jaume Campistol1, Barbara Plecko2.   

Abstract

About 25% of seizures in the neonatal period have causes other than asphyxia, ischaemia or intracranial bleeding. Among these are primary genetic epileptic encephalopathies with sometimes poor prognosis and high mortality. In addition, some forms of neonatal infant seizures are due to inborn errors of metabolism that do not respond to common AEDs, but are amenable to specific treatment. In this situation, early recognition can allow seizure control and will prevent neurological deterioration and long-term sequelae. We review the group of inborn errors of metabolism that lead to newborn/infant seizures and epilepsy, of which the treatment with cofactors is very different to that used in typical epilepsy management.

Entities:  

Keywords:  cofactors; infancy; newborn; refractory epilepsy; seizures; therapeutic option; vitamins

Mesh:

Year:  2015        PMID: 26234933     DOI: 10.1684/epd.2015.0754

Source DB:  PubMed          Journal:  Epileptic Disord        ISSN: 1294-9361            Impact factor:   1.819


  12 in total

1.  A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.

Authors:  Amy Sirr; Russell S Lo; Gareth A Cromie; Adrian C Scott; Julee Ashmead; Mirutse Heyesus; Aimée M Dudley
Journal:  J Inherit Metab Dis       Date:  2020-02-27       Impact factor: 4.982

2.  The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

Authors:  Déborah Mathis; Lucia Abela; Monique Albersen; Céline Bürer; Lisa Crowther; Karin Beese; Hans Hartmann; Levinus A Bok; Eduard Struys; Sorina M Papuc; Anita Rauch; Martin Hersberger; Nanda M Verhoeven-Duif; Barbara Plecko
Journal:  J Inherit Metab Dis       Date:  2016-06-24       Impact factor: 4.982

Review 3.  Metabolic etiologies in West syndrome.

Authors:  Seda Salar; Solomon L Moshé; Aristea S Galanopoulou
Journal:  Epilepsia Open       Date:  2018-03-14

4.  PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.

Authors:  Hiroshi Shiraku; Mitsuko Nakashima; Saoko Takeshita; Chai-Soon Khoo; Muzhirah Haniffa; Gaik-Siew Ch'ng; Kazuma Takada; Keisuke Nakajima; Masayasu Ohta; Tohru Okanishi; Sotaro Kanai; Ayataka Fujimoto; Hirotomo Saitsu; Naomichi Matsumoto; Mitsuhiro Kato
Journal:  Epilepsia Open       Date:  2018-11-01

5.  NMR-based metabolomics in pediatric drug resistant epilepsy - preliminary results.

Authors:  Łukasz Boguszewicz; Ewa Jamroz; Mateusz Ciszek; Ewa Emich-Widera; Marek Kijonka; Tomasz Banasik; Agnieszka Skorupa; Maria Sokół
Journal:  Sci Rep       Date:  2019-10-21       Impact factor: 4.379

6.  An Approach to Neurometabolic Epilepsy in Children with an Underlying Neurometabolic Disorder.

Authors:  Parvaneh Karimzadeh; Parinaz Habibi
Journal:  Iran J Child Neurol       Date:  2020

7.  Over 10-Year Outcomes of Infantile-Onset Epilepsies.

Authors:  Hyun-Jin Kim; Han Na Jang; Hyunji Ahn; Mi-Sun Yum; Tae-Sung Ko
Journal:  J Clin Med       Date:  2021-01-22       Impact factor: 4.241

8.  Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect - First case report from Pakistan and review of literature.

Authors:  Sibtain Ahmed; Ralph J DeBerardinis; Min Ni; Bushra Afroze
Journal:  Ann Med Surg (Lond)       Date:  2020-12-01

Review 9.  Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.

Authors:  Suvasini Sharma; Asuri N Prasad
Journal:  Int J Mol Sci       Date:  2017-07-02       Impact factor: 5.923

10.  Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.

Authors:  Kristian Vestergaard Jensen; Maria Frid; Tommy Stödberg; Michela Barbaro; Anna Wedell; Mette Christensen; Mads Bak; Jakob Ek; Camilla Gøbel Madsen; Niklas Darin; Sabine Grønborg
Journal:  JIMD Rep       Date:  2019-09-30
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