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THE SPANISH ION CHANNEL INITIATIVE site

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  Table of known channelopathies

Click on the ion channel of interest: K+, Na+, Ca2+, Cl- , Glycine receptor, Acetylcholine receptor, TRP channels, GABA-A receptor, Other

K + Channel
Episodic ataxia type 1.

- National Ataxia Foundation (USA)

- CINCH Consortium for Clinical Investigations of Neurological Channelopathies

- Web HispanoAtaxias

Hyperinsulinemic hypoglycemia of infancy.

- eMedicine clinical reference entry

- Entry for the illness in the Online Mendelian Inheritance in Man database OMIM

Oncogenic potential.

- Article in Embo Journal: Oncogenic potential of EAG K+ channels

- Article in PNAS: Oncogenic potential of TASK3 (Kcnk9) depends on K+ channel function

- KV10.1 entry in the Iuphar Ion Channel Compendium

Benign familial neonatal convulsions.

- eMedicine clinical reference entry for the disease

- Data sheet on the disease at Orphanet (portal of rare diseases and orphan drugs)

- Article about altered gating of KCNQ2/KCNQ3 in the disease

- Entry for the disease in the Online Mendelian Inheritance in Man database OMIM

Hereditary hearing loss.

- Expert-authored review on the disease

- Article about KCNQ4 mutations involvement in deafness

- Hereditary Hearing Loss homepage

Type II diabetes.

- Article on the illness in Human Molecular Genetics

Antenatal variant of Bartter syndrome.

- The Bartter Site

Andersen's syndrome.

- Entry for the disease in the Online Mendelian Inheritance in Man database OMIM

- News release at Utah University: Cause of Disorder Points to Faulty Ion Channel

Total colour blindness.

- Entry for channel in the Online Mendelian Inheritance in Man database OMIM

Periodic Paralysis.

- eMedicine clinical reference entry for the disease

Long QT syndrome (type 1,2,5).

- Articule: Bases iónicas, moleculares y genéticas del síndrome del QT prolongado

- eMedicine clinical reference entry for the disease

Myokymia.

- Article about the involvement of KCNA1 in the disease in Neurogenetics

   
   
   
Na + Channel
Liddle's syndrome.

- Entry for the illness in the Online Mendelian Inheritance in Man database OMIM

- News at Howard Hughes Medical Institute: Sodium channel gene key in Liddle's syndrome

Hyperkaelemic Periodic Paralysis.

- Entry for the disease in Swedish web page of rare diseases

Paramyotonia congenita.

- Entry for the disease in the Online Mendelian Inheritance in Man database OMIM

Generalized epilepsy with febrile seizures types 1 and 2.

- General article on the disease

- Article on the disease in Orphanet

Long QT syndrome 3.

- Article on the disease in emedicine

Pseudohypoaldosteronism.

- Article on the illness in emedicine

- Article in "Archives of disease in childhood" on the illness

Potassium-aggravated myotonia.

- Article on the illness in Genetics Home Reference

Severe myoclonic epilepsy of infancy.

- Article in the International League Against Epilepsy web site

Brugada syndrome.

- Article in NCBI genereviews

- Desrciption of the illness in the Cardiac Risk in the Young web page

- Brugada syndrome site

Isolated cardiac conduction disease.

- Letter to nature on the issue

   
   
   
Ca 2+ Channel
Episodic ataxia type 2.

- Article on the illness in ncbi genereviews

- Article in Neurologia: Estudio clinoco y genetico en una familia

Familial hemiplegic migraine.

- Article on the illness in NCBI genereviews

- Association of the illness with mutations in Calcium channels

Spinocerebellar ataxia type 6.

- Article in NCBI genereviews

- Publication from the National Ataxia Foundation

Hypokaelemic periodic paralysis type I.

- Periodic Paralysis Newsdesk

- Periodic Paralysis Resource Centre

Malignant hyperthermia.

- Malignant Hyperthermia Association of the United States

- Department of Anesthesiology Homepage at UCLA

- Article in the Genetics Home Reference webpage

Generalized epilepsy.

- Article on the involvement of Cav21 channel

Central core disease.

- Article in the Genetics Home Reference webpage

Congenital night blindness.

- Involvement of the Cav1.4L-type channel

- Entry for the illness in the Online Mendelian Inheritance in Man database OMIM

Expressed in advanced prostate cancer.

- α1H(Ca,3.2) T-type channel and differentiation of prostate cancer cells

Stationary night blindness.

- Involvement of the Cav1.4L-type channel

- Article in ncbi genereviews

   
   
   
Cl - Channel
Myotonia congenita - (dominant or recessive).

- Mutation in chloride channels involved in the illness

- Reference to article of Nature Genetics

- Reference to article of Science

Dent's disease (proteinuria and hypercalciuria).

- Reference to article in Frontiers of Nephrology

- Article on the illness in Kidney International

Osteopetrosis.

- Reference to article in Cell

Bartter syndrome.

- Article on the illness in emedicie

- Reference to article in EMBO journal

Cystic Fibrosis.

- Notes for Human Genome Cystic Fibrosis

- Cl- Channel in Cystic Fibrosis

- Cystic Fibrosis Transmembrane Conductance Regulator Cl- channel

   
   
   
Glycine receptor
Hyperekplexia (stiff baby syndrome).

- OMIM entry

- GLR1 mutation in Hyperekplexia

Startle disease.

- Reduce agonist sensitivity of the human Glycine receptor in Startle disease

   
   
   
Acetylcholine receptor
Congenital myasthenia.

- Article in ncbi genereviews

Nocturnal frontal lobe epilepsy.

- Article in ncbi genereviews

- Altered gating of α4β2 Nicotinic Achetylcholine Receptor associated with illness

   
   
   
TRP Channels
Polycystic kidney disease.

- Reference to article in Biochim. Biophys. Acta

- Article TRP channels and kidney disease

Mucolipidosis.

- National Institute of Neurological Disorders and Stroke

Beckwith-Wiedemann-syndrome.

- OMIM entry

- Article on illness in emedicine

- Beckwith-Weidemann-syndrome site

Familial hypomagnesemia with hypocalcemia.

- OMIM entry

   
   
   
GABA-A receptor
Generalized epilepsy with febrile seizures.

- Article on the illness in Brain

   
   
   
Other
Retinitis pigmentosa

- Review article in EMBO

- OMIM entry

- The British Retinitis Pigmentosa Society

Achromatopsia

- The Achromatopsia Group

- Article about the biological locus of acromatopsia as a syndrome

Darier disease.

- Article about the illness in emedicine

- Darier disease resource sit


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