Infantile-Onset Epileptic Encephalopathy - A Treatable Cause

被引：0

作者：

Jinka, Dasaratha R. ^{[1
]}

Lingappa, Lokesh ^{[1
]}

Konanki, Ramesh ^{[1
]}

机构：

[1] Rainbow Childrens Hosp, Dept Pediat Neurol, Hyderabad, Telangana, India

来源：

ANNALS OF INDIAN ACADEMY OF NEUROLOGY | 2024年 / 27卷 / 05期

关键词：

II HYPERPROLINEMIA;

D O I：

10.4103/aian.aian_3_24

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：593 / 595

页数：3

共 9 条

[1] B6-responsive disorders:: A model of vitamin dependency [J].

Clayton, PT .

JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (2-3) :317-326

[2] Role of antioxidants on Na+,K+-ATPase activity and gene expression in cerebral cortex of hyperprolinemic rats [J].

Ferreira, Andrea G. K. ;

Stefanello, Francieli M. ;

Cunha, Aline A. ;

da Cunha, Maira J. ;

Pereira, Talita C. B. ;

Bonan, Carla D. ;

Bogo, Mauricio R. ;

Netto, Carlos A. ;

Wyse, Angela T. S. .

METABOLIC BRAIN DISEASE, 2011, 26 (02) :141-147

[3] TYPE-II HYPERPROLINEMIA IN A PEDIGREE OF IRISH TRAVELERS (NOMADS) [J].

FLYNN, MP ;

MARTIN, MC ;

MOORE, PT ;

STAFFORD, JA ;

FLEMING, GA ;

PHANG, JM .

ARCHIVES OF DISEASE IN CHILDHOOD, 1989, 64 (12) :1699-1707

[4] Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant [J].

Kaur, Rajdeep ;

Paria, Pradip ;

Saini, Arushi Gahlot ;

Suthar, Renu ;

Bhatia, Vikas ;

Attri, Savita Verma .

METABOLIC BRAIN DISEASE, 2021, 36 (06) :1413-1417

[5] Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review [J].

Mastrangelo, Mario ;

Gasparri, Valentina ;

Bernardi, Katerina ;

Foglietta, Silvia ;

Ramantani, Georgia ;

Pisani, Francesco .

CHILDREN-BASEL, 2023, 10 (03)

[6] Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis [J].

Motte, Jeremias ;

Fisse, Anna Lena ;

Grueter, Thomas ;

Schneider, Ruth ;

Breuer, Thomas ;

Luecke, Thomas ;

Krueger, Stefan ;

Huu Phuc Nguyen ;

Gold, Ralf ;

Ayzenberg, Ilya ;

Ellrichmann, Gisa .

BMC NEUROLOGY, 2019, 19 (01)

[7]

Önenli-Mungan N, 2004, TURKISH J PEDIATR, V46, P167

[8] GENETIC-EVIDENCE FOR A COMMON ENZYME CATALYZING THE 2ND STEP IN THE DEGRADATION OF PROLINE AND HYDROXYPROLINE [J].

VALLE, D ;

GOODMAN, SI ;

HARRIS, SC ;

PHANG, JM .

JOURNAL OF CLINICAL INVESTIGATION, 1979, 64 (05) :1365-1370

[9] Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia [J].

van de Ven, Steffi ;

Gardeitchik, Thatjana ;

Kouwenberg, Dorus ;

Kluijtmans, Leo ;

Wevers, Ron ;

Morava, Eva .

JOURNAL OF INHERITED METABOLIC DISEASE, 2014, 37 (03) :383-390

← 1 →