نتایج جستجو برای: pyridoxine dependent epilepsy

تعداد نتایج: 745226  

2009
Chang-Yong Tsao

Correspondence: Chang-Yong Tsao 700 Children’s Dr Columbus, Ohio 43205, USA Tel +1 614-722-4691 Fax +1 614-722-4633 email changyong.tsao@ nationwidechildrens.org Abstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic epileptic spasms, and specific electroencephalographic patterns (interictal hypsarrhythmia and ictal volt...

2009
Chang-Yong Tsao

Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic epileptic spasms, and specific electroencephalographic patterns (interictal hypsarrhythmia and ictal voltage suppression). Adrenocorticotropic hormone (ACTH) was first employed to treat infantile spasms in 1958, and since then it has been tried in prospective and retrospective...

Journal: :Pediatrics 2012
Saadet Mercimek-Mahmutoglu Gabriella A Horvath Marion Coulter-Mackie Tanya Nelson Paula J Waters Michael Sargent Eduard Struys Cornelis Jakobs Sylvia Stockler-Ipsiroglu Mary B Connolly

Pyridoxine-dependent epilepsy (PDE) was first described in 1954. The ALDH7A1 gene mutations resulting in α-aminoadipic semialdehyde dehydrogenase deficiency as a cause of PDE was identified only in 2005. Neonatal epileptic encephalopathy is the presenting feature in >50% of patients with classic PDE. We report the case of a 13-month-old girl with profound neonatal hypoglycemia (0.6 mmol/L; refe...

Journal: :The Journal of pharmacology and experimental therapeutics 2009
Tsung-Tair Yang Su-Jane Wang

Pyridoxine (vitamin B(6)) protects neurons against neurotoxicity. An excessive release of glutamate is widely considered to be one of the molecular mechanisms of neuronal damage in several neurological diseases. We investigated whether pyridoxine affected glutamate release in rat cerebral cortex nerve terminals (synaptosomes). Pyridoxine inhibited the release of glutamate that was evoked by exp...

2017
Sanmei Wang Jing Sun Yao Tu Lina Zhu Zhichun Feng

Pyridoxine-dependent epilepsy (PDE) is a rare disorder caused by aldehyde dehydrogenase 7 family member A1 (ALDH7A1) deficiency. The present study reported on three Chinese cases of PDE with phenotypic variability for providing further insight into this disease. All three patients presented with recurrent seizures and readily responded to treatment with pyridoxine, in line with the typical symp...

Journal: :Epileptic disorders : international epilepsy journal with videotape 2009
Georges Naasan Mohamad Yabroudi Amal Rahi Mohamad A Mikati

OBJECTIVE Pyridoxine-dependent epilepsy (PDE) is a rare disease, of which the EEG manifestations are only partially characterised. We report our observations of EEG recordings in four patients with PDE. MATERIALS AND METHODS EEG tracings from four patients fulfilling the clinical criteria for PDE were reviewed. Relative to the time of treatment with pyridoxine, EEG recordings were available b...

Journal: :Archives of disease in childhood 2005
H-S Wang M-F Kuo M-L Chou P-C Hung K-L Lin M-Y Hsieh M-Y Chang

AIM To study the difference between pyridoxine (PN) and its active form, pyridoxal phosphate, (PLP) in control of idiopathic intractable epilepsy in children. METHODS Among 574 children with active epilepsy, 94 (aged 8 months to 15 years) were diagnosed with idiopathic intractable epilepsy for more than six months. All received intravenous PLP 10 mg/kg, then 10 mg/kg/day in four divided doses...

1995
Hiroyuki Ohsaki Go Hasegawa Masayuki Murata Hideo Miyahara

In this paper, the rate-based congestion control algorithm that has been standardized in the ATM Forum is evaluated. Its behavior is analyzed by utilizing a firstorder fluid approximation to provide control parameter tuning. We obtain the maximum queue length at the switch and conditions for avoiding under-utilization. The results are then applied to TCP over ABR service class. More specificall...

Journal: :The Spanish journal of psychology 2008
Chingis A Izmailov Svetlana G Korshunova Yevgeniy N Sokolov

This work analyzes data from recordings of (occipital and temporal) cortical evoked potentials (called evoked potentials of differentiation (EPD) occurring in humans in response to an abrupt substitution of stimuli. As stimuli we used three groups of words: the names of the ten basic colors taken from Newton's color circle; the names of seven basic emotions forming Shlossberg's circle of emotio...

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