Results 51 to 60 of about 1,711 (154)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

Tokyo Women's Medical University Journal, 2019
Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene.
Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto   +7 more
doaj   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Pyridoxine dependent epilepsies: new therapeutical point of view [PDF]

Italian Journal of Pediatrics, 2017
Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration. Atypical forms are characterized partly response to pyridoxine and a late onset of symptoms (up to the age of ...
Falsaperla R, Corsello G
openaire   +5 more sources

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. [PDF]

PLoS ONE, 2014
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.
Zhixian Yang, Xiaoling Yang, Ye Wu, Jingmin Wang, Yuehua Zhang, Hui Xiong, Yuwu Jiang, Jiong Qin   +7 more
doaj   +1 more source

A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus

Journal of Pediatric Emergency and Intensive Care Medicine, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive encephalopathy due to mutations in the ALDH7A1 gene. Intractable seizures are the most frequent clinical form in the early infantile period.
Senem Ayça, Hamide Betül Gerik Çelebi, Sırrı Çam, Muzaffer Polat   +3 more
doaj   +1 more source

Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature

The Turkish Journal of Pediatrics, 2015
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of ...
Gülen Gül-Mert, Faruk İncecik, M Özlem Hergüner, Serdar Ceylaner, Şakir Altunbaşak   +4 more
doaj  

Prurigo Pigmentosa – an increasingly diagnosed dermatological condition associated with ketogenic diet

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
SUMMARY Prurigo pigmentosa (PP) is a rare inflammatory dermatosis, clinically characterized by intensely pruritic, erythematous papules and papulovesicles, with reticular hyperpigmentation upon healing. We herein report four cases in adults of different ethnic backgrounds, in which the disease was associated with ketogenic metabolic states due to ...
Antigona Aliu, Milan Vidakovic, Marcel Krauß, Julia Hyun, Frank Oellig, Thilo Gambichler, Valentina Laura Müller, Alexander Kreuter   +7 more
wiley   +1 more source