Paula and Bobby
Parents of Lillie
Channel (cl, Na, K, Ca) Disease - Classification
What is Channel (cl, Na, K, Ca) Disease - Classification?
Channel (cl, Na, K, Ca) Disease - Classification is a rare disease. It is also known as Myotonia caused by channel disease CLASSIFICATION.
Ion channels are made up of subunits with an aqueous pore. They are gaited and might be opened or closed by either ligands attaching themselves to receptors or opened by changes in voltage (Zuberi and Hanna 2001).
Chloride: Congenital myotonia 7q35 CLCN1 (Koch et al., 1992)
(both Thompson and Becker)
Myotonia levior 7q35 CLCN1
Hyperekplexia 5q32 GLRA-1
Sodium: Hyperkalemic periodic paralysis 17q23 SCN4A
Hypokalemic periodic paralysis 17q23 SCN4A (Bulman et al., 1999)
Paramyotonia congenita (PC) 17q23 SCN4A (Ebers et al., 1991)
PC aggrevated by potassium 17q23 SCN4A (Plaster et al., 2001)
Masseter rigidity succinyl choline induced 17q
Long QT 3p21-24 SCN5A (Wang et al., 1995)
Epilepsy - generalised with febrile 19q SCN1B
Epilepsy - generalised with febrile 2q SCN1A
Calcium Hypokalemic periodic paralysis 1q31-q32 CACLN1A3 (Fontaine et al., 1994)
Episodic ataxia type II 19p13 CACNL1A4 (Ophoff et al., 1996)
SCA6 19q13 CACNL1A4
Migraine-hemiplegic 19p13 CACNL1A4
Central core disease 19q RYR1
Epilepsy - nocturnal, frontal lobe 20q13 CHRNA4
Epilepsy - nocturnal, frontal lobe 15q24 CHRNA3
Epilepsy-nocturnal, frontal lobe 1p CHRNB2
Potassium Long QT 7q35-36 LQT2 Curran et al., (1995)
Long QT 11p15 LQT1 Wang et al., (1996)
Long QT 21q22 LQT5 Splawski et al., (1997)
Long QT 4q25-4q27 LQT4 Schott et al., (1995)
Myokymia/periodic ataxia 12p13 KCNA1
(episodic ataxia type 1)
Malignant hyperthermia 19q13 RYR1(MHS1)
Malignant hyperthermia 17q11.2-q24 MHS2 probably SCN4A (Levitt et al., (1992)
Malignant hyperthermia 7q21 MHS3 probably CACNL2A (Iles et al., 1994)
Malignant hyperthermia 3q13 MHS4 (Sudbrak et al., 1995)
Malignant hyperthermia 1q31-q32 MHS5 probably CACNL1A3 (Monnier et al., 1997)
Malignant hyperthermia 5p MHS6 (Robinson et al., 1997)
Epilepsy - benign neonatal 20q13 KCNQ2
Epilepsy - benign neonatal 8q24 KCNQ3
Nicotinic acetylcholine receptor
Myasthenia - slow channel disease 17p11 CHRNB (Engel et al., 1996)
Myasthenia - slow channel disease 2q24-2q32 CHRNA (Sine et al., 1995)
Myasthenia - fast channel disease 17p 13 CHRNE (Ohno et al., 1996)
* This information is courtesy of the L M D.
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What gene changes cause Channel (cl, Na, K, Ca) Disease - Classification?
The syndrome is inherited in the following inheritance pattern/s:
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Channel (cl, Na, K, Ca) Disease - Classification?
The typical symptoms of the syndrome are:
How does someone get tested for Channel (cl, Na, K, Ca) Disease - Classification?
The initial testing for Channel (cl, Na, K, Ca) Disease - Classification can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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