Type 2 Hypokalemic Periodic Paralysis

mutation in SCN4A

Also Known As:

Hypokalemic Periodic Paralysis, Type 2; HOKPP2

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Familial Periodic Paralyses: 71
    - Hypokalemic Periodic Paralysis: 357
      - Type 2 Hypokalemic Periodic Paralysis: 4
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Familial Periodic Paralyses: 71
      - Hypokalemic Periodic Paralysis: 357
        Type 2 Hypokalemic Periodic Paralysis: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - Familial Periodic Paralyses: 71
        Hypokalemic Periodic Paralysis: 357
        Type 2 Hypokalemic Periodic Paralysis: 4
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - Familial Periodic Paralyses: 71
        Hypokalemic Periodic Paralysis: 357
        Type 2 Hypokalemic Periodic Paralysis: 4

Related Diseases

1.	Channelopathies
2.	Hypokalemic Periodic Paralysis (Periodic Paralysis, Hypokalemic)
3.	Hyperkalemic Periodic Paralysis
4.	Muscle Weakness
5.	Myotonia Congenita (Thomsen Disease)

Experts

1.	Bautista-Medina, Mario Arturo: 1 article (10/2020)
2.	Cerda-Flores, Ricardo Martin: 1 article (10/2020)
3.	Gallardo-Blanco, Hugo Leonid: 1 article (10/2020)
4.	Lavalle-Gonzalez, Fernando Javier: 1 article (10/2020)
5.	Martinez-Garza, Laura Elia: 1 article (10/2020)
6.	Villarreal-Perez, Jesus Zacarias: 1 article (10/2020)
7.	Huang, Hui: 1 article (01/2020)
8.	Luo, Yingying: 1 article (01/2020)
9.	Shi, Xiaoliu: 1 article (01/2020)
10.	Tang, DongFang: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 2 Hypokalemic Periodic Paralysis:

1.	Voltage-Gated Sodium ChannelsIBA 03/01/2017 - "The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis type 2. This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia." 01/01/2020 - "Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4. The patients with concomitant mutations in both genes manifested different unique symptoms from mutations in these genes separately. "
2.	Chloride Channels (Chloride Channel)IBA 01/01/2020 - "Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4. The patients with concomitant mutations in both genes manifested different unique symptoms from mutations in these genes separately. "
3.	Sodium Channels (Sodium Channel)IBA 08/15/2000 - "Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current."
4.	PotassiumIBA 10/01/2020 - "Hypokalemic periodic paralysis type 1 (OMIM; HOKPP1) and type 2 (OMIM; HOKPP2) are diseases of the muscle characterized by episodes of painless muscle weakness, and is associated with low potassium blood levels. "