Type 6 Episodic Ataxia

Also Known As:

Episodic Ataxia, Type 6

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Ataxia: 6364
      - Cerebellar Ataxia: 1529
        Type 6 Episodic Ataxia: 6
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Cerebellar Diseases: 631
      - Cerebellar Ataxia: 1529
        Type 6 Episodic Ataxia: 6
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Ataxia: 6364
        Cerebellar Ataxia: 1529
        Type 6 Episodic Ataxia: 6

Related Diseases

1.	Nervous System Diseases (Neurological Disorders)
2.	Brain Diseases (Brain Disorder)

Experts

1.	Fahlke, Christoph: 2 articles (12/2013 - 11/2012)
2.	Kovermann, Peter: 2 articles (12/2013 - 11/2012)
3.	Chen, Ichia: 1 article (01/2022)
4.	Font, Josep: 1 article (01/2022)
5.	Ryan, Renae M: 1 article (01/2022)
6.	Wu, Qianyi: 1 article (01/2022)
7.	Choi, Jae-Hwan: 1 article (03/2017)
8.	Choi, Kwang-Dong: 1 article (03/2017)
9.	Choi, Seo Young: 1 article (03/2017)
10.	Jen, Joanna C: 1 article (03/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 6 Episodic Ataxia:

1.	Amino Acid Transport System X-AG (Glutamate Transporter)IBA 03/01/2017 - "Episodic ataxia type 6 (EA6) is caused by mutations in SLC1A3 that encodes excitatory amino acid transporter 1 (EAAT1), a glial glutamate transporter. " 11/01/2012 - "There are several genetically and clinically distinct forms of this disease, and one of them, episodic ataxia type 6, is caused by mutations in the gene encoding a glial glutamate transporter, the excitatory amino acid transporter-1. "
2.	Excitatory Amino AcidsIBA 01/01/2016 - "Patients with Type 6 episodic ataxia (EA6) have mutations of the excitatory amino acid transporter EAAT1 (also known as GLAST), but the underlying pathophysiological mechanism for EA6 is not known. " 11/01/2012 - "There are several genetically and clinically distinct forms of this disease, and one of them, episodic ataxia type 6, is caused by mutations in the gene encoding a glial glutamate transporter, the excitatory amino acid transporter-1. " 11/01/2012 - "Episodic ataxia type 6 represents the first human disease found to be associated with altered function of excitatory amino acid transporter anion channels and illustrates possible physiological and pathophysiological impacts of this functional mode of this class of glutamate transporters." 11/01/2012 - "So far, reduced glutamate uptake by mutant excitatory amino acid transporter-1 has been thought to be the main pathophysiological process in episodic ataxia type 6. However, excitatory amino acid transporter-1 does not only mediate secondary-active glutamate transport, but also functions as an ion channel. "
3.	Glutamic Acid (Glutamate)FDA Link 11/01/2012 - "Episodic ataxia type 6 represents the first human disease found to be associated with altered function of excitatory amino acid transporter anion channels and illustrates possible physiological and pathophysiological impacts of this functional mode of this class of glutamate transporters." 11/01/2012 - "So far, reduced glutamate uptake by mutant excitatory amino acid transporter-1 has been thought to be the main pathophysiological process in episodic ataxia type 6. However, excitatory amino acid transporter-1 does not only mediate secondary-active glutamate transport, but also functions as an ion channel. " 12/20/2013 - "A naturally occurring mutation, which was identified in a patient with episodic ataxia type 6 and that predicts the substitution of a highly conserved proline at position 290 by arginine (P290R), was recently shown to reduce glutamate uptake and to increase anion conduction by hEAAT1. "
4.	Arginine (L-Arginine)FDA Link 01/01/2023 - "Two homologous mutations, which predict substitutions of prolines in the center of the fifth transmembrane helix by arginine (P289R EAAT2, P290R EAAT1), have been identified in patients with epileptic encephalopathy (SLC1A2) or with episodic ataxia type 6 (SLC1A3). " 12/20/2013 - "A naturally occurring mutation, which was identified in a patient with episodic ataxia type 6 and that predicts the substitution of a highly conserved proline at position 290 by arginine (P290R), was recently shown to reduce glutamate uptake and to increase anion conduction by hEAAT1. "
5.	AnionsIBA 11/01/2012 - "Episodic ataxia type 6 represents the first human disease found to be associated with altered function of excitatory amino acid transporter anion channels and illustrates possible physiological and pathophysiological impacts of this functional mode of this class of glutamate transporters." 12/20/2013 - "A naturally occurring mutation, which was identified in a patient with episodic ataxia type 6 and that predicts the substitution of a highly conserved proline at position 290 by arginine (P290R), was recently shown to reduce glutamate uptake and to increase anion conduction by hEAAT1. "
6.	Excitatory Amino Acid Transporter 1 (Glutamate Aspartate Transporter 1)IBA 03/01/2017 - "Episodic ataxia type 6 (EA6) is caused by mutations in SLC1A3 that encodes excitatory amino acid transporter 1 (EAAT1), a glial glutamate transporter. "
7.	Proline (L-Proline)FDA Link 12/20/2013 - "A naturally occurring mutation, which was identified in a patient with episodic ataxia type 6 and that predicts the substitution of a highly conserved proline at position 290 by arginine (P290R), was recently shown to reduce glutamate uptake and to increase anion conduction by hEAAT1. "
8.	Ion Channels (Ion Channel)IBA 11/01/2012 - "So far, reduced glutamate uptake by mutant excitatory amino acid transporter-1 has been thought to be the main pathophysiological process in episodic ataxia type 6. However, excitatory amino acid transporter-1 does not only mediate secondary-active glutamate transport, but also functions as an ion channel. "
9.	ChloridesIBA 01/01/2022 - "Several point mutations that perturb the chloride conductance can have detrimental effects and are linked to the pathogenesis of the neurological disorder, episodic ataxia type 6."