THE SPANISH ION CHANNEL INITIATIVE

WELCOME TO THE SPANISH ION CHANNEL INITIATIVE (Consolider programme 2008)

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

WELCOME TO THE SPANISH ION CHANNEL INITIATIVE (Consolider programme 2008)

Table of known channelopathies

Episodic ataxia type 1.

Hyperinsulinemic hypoglycemia of infancy.

Oncogenic potential.

Benign familial neonatal convulsions.

Hereditary hearing loss.

Type II diabetes.

Antenatal variant of Bartter syndrome.

Andersen's syndrome.

Total colour blindness.

Periodic Paralysis.

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

Myokymia.

Liddle's syndrome.

Hyperkaelemic Periodic Paralysis.

Paramyotonia congenita.

Generalized epilepsy with febrile seizures types 1 and 2.

Long QT syndrome 3.

Pseudohypoaldosteronism.

Potassium-aggravated myotonia.

Severe myoclonic epilepsy of infancy.

Brugada syndrome.

Isolated cardiac conduction disease.

Episodic ataxia type 2.

Familial hemiplegic migraine.

Spinocerebellar ataxia type 6.

Hypokaelemic periodic paralysis type I.

Malignant hyperthermia.

Generalized epilepsy.

Central core disease.

Congenital night blindness.

Expressed in advanced prostate cancer.

Stationary night blindness.

Myotonia congenita - (dominant or recessive).

Dent's disease (proteinuria and hypercalciuria).

Osteopetrosis.

Bartter syndrome.

Cystic Fibrosis.

Hyperekplexia (stiff baby syndrome).

Startle disease.

Congenital myasthenia.

Nocturnal frontal lobe epilepsy.

Polycystic kidney disease.

Mucolipidosis.

Beckwith-Wiedemann-syndrome.

Familial hypomagnesemia with hypocalcemia.

Generalized epilepsy with febrile seizures.

Retinitis pigmentosa

Achromatopsia

Darier disease.