珍珠和:在依赖的皮里多克辛患者中对皮里多克辛的延迟反应
Olivier Fortin1, Kelsey Christoffel2, Youssef Kousa2
1From the Prenatal Pediatrics Institute (O.F., K.C., Y.K., S.B.M.), Children's National Hospital; Department of Neurology (Y.K., S.B.M., T.A.), and Department of Pediatrics (Y.K., K.D., S.B.M., T.A.), The George Washington University School of Medicine and Health Sciences; Division of Neurology (Y.K., T.A.), Division of Medical Genetics (I.M., E.L.), Rare Disease Institute (I.M., E.L.), and Division of Neonatology (K.D.), Children's National Hospital, Washington, DC. ofortin@childrensnational.org.
金素依赖性 (PDE) 是一种遗传性疾病,导致新生儿发作. 虽然素 (维生素B6) 可以帮助,但临床改善可能是渐进的,需要继续治疗.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 代谢的先天性错误包括遗传性疾病,包括皮里多克素依赖性 (PDE),这是新生儿发作的的原因.
- PDE是由ALDH7A1基因中的双致病变体引起的,通常呈现为耐火新生儿发作和状态.
更多相关视频
04:51Pupillary Response as Assessment of Effective Seizure Induction by Electroconvulsive Therapy
Published on: April 11, 2019
09:07Electroconvulsive Seizures in Rats and Fractionation of Their Hippocampi to Examine Seizure-induced Changes in Postsynaptic Density Proteins
Published on: August 15, 2017
相关概念视频
Antiepileptic Drugs: Potassium Channel Activators
Ezogabine has gained approval as an adjunctive treatment...
Antiepileptic Drugs: Glutamate Antagonists
Antiepileptic Drugs: GABAergic Pathway Potentiators
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
Factors Affecting Drug Response: Overview
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
Nonlinear Pharmacokinetics: Dependence of Elimination Half-Life and Dose Clearance
A study on guinea pigs examined the...
