neuromuscular channelopathies

European Journal of Paediatric Neurology (2003) 7, 187–190

www.elsevier.com/locate/ejpn

GENE TABLE

Central nervous system/neuromuscular channelopathies Sameer M. Zuberi* Fraser of Allander Neurosciences Unit, Department of Neurology and Child Development, Royal Hospital for Sick Children, Glasgow, UK Accepted 28 April 2003

Disorder

Central nervous system channelopathies Ligand gated Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant juvenile myoclonic epilepsy (rare subtype) Idiopathic generalised epilepsyfamilial subset Febrile seizures and childhood absence epilepsy Generalised epilepsy with febrile seizures plus Hyperekplexia Hyperekplexia

Mode of inheritance

Gene location

Gene symbol

Gene product

Key refs

AD

20q13.2

CHRNA4

1

AD

1p21

CHRNB2

AD

5q34-35

GABRA1

Neuronal nicotinic acetylcholine receptor a4 subunit Neuronal nicotinic acetylcholine receptor b2 subunit GABA A receptor a1 subunit

4

AD, complex

3q27-28

CLCN2

Chloride channel

5

AD, complex

5q32-33

GABRG2

6

AD, complex

5q32-33

GABRG2

AD, AR Compound heterozygote

5q32 4q31.3

GLRA-1 GLRB

GABA A receptor g2 subunit. Extracellular domain GABA A receptor g2 subunit. Transmembrane domain Glycine receptor a1 subunit Glycine receptor b subunit

2,3

7 8 9

Voltage gated Potassium channel Benign familial neonatal seizures/(myokymia) Benign familial neonatal seizures Episodic ataxia type 1 ^ epilepsy

AD

20q13.3

KCNQ2

Potassium channel subunit

10,11,12

AD AD

8q24 12p13

KCNQ3 KCNA1

Potassium channel subunit Potassium channel

11,13 14,15

Sodium channel Benign neonatal-infantile seizures

AD

2q22-23

SCN2A

Sodium channel a2 subunit 16 (continued on next page)

*Correspondence: S.M. Zuberi, Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Yorkhill, Glasgow, UK. Fax: þ 44-141-201-9270. E-mail address: [email protected] 1090-3798/03/$ - see front matter Q 2003 European Paediatric Neurology Society. Published by Elsevier Science Ltd. All rights reserved. doi:10.1016/S1090-3798(03)00053-9

188

S.M. Zuberi

Disorder

Mode of inheritance

Gene location

Gene symbol

Gene product

Generalised epilepsy with febrile seizures plus Generalised epilepsy with febrile seizures Sporadic severe myoclonic epilepsy of infancy and late onset variants Generalised epilepsy with febrile seizures plus

AD, complex

19q13

SCN1B

AD, complex

2q24

SCN1A

De novo mutations AD, complex

2q24

SCN1A

2q22-23

SCN2A

Neuronal sodium channel regulatory subunit Neuronal sodium channel subunit Neuronal sodium channel subunit Neuronal sodium channel subunit

AD AD AD

19p13 19p13 19p13

CACNA1A CACNA1A CACNA1A

Calcium channel Calcium channel Calcium channel

22 22 23

AD AD AD AD

17q23 17q23 17q23 17q23

SCNA4 SCNA4 SCNA4 SCNA4

Sodium channel a subunit Sodium channel a subunit Sodium channel a subunit Sodium channel a subunit

24 25 26 27

28

Calcium channel Familial hemiplegic migraine Episodic ataxia type 2 Spinocerebellar ataxia type 6 Skeletal Muscle and Nerve Channelopathies Sodium channel Hyperkalaemic periodic paralysis Paramyotonia congenita Potassium aggravated myotonia Hypokalaemic periodic paralysis, type 2

Key refs b

17

a1

18

a1

19,20

a2

21

Calcium channel Hypokalaemic periodic paralysis, type 1 Malignant hyperthermia

AD

1q31-q32

CACNL1A3

AD

1q31-q32

CACNL1A3

Malignant hyperthermia

AD

19q13.1

RYR1

Central core disease

AD

19q13.1

RYR1

Stationary night blindness

X

Xp11.23

CACNA1F

Calcium channel-dihydropyridine receptor Calcium channel-dihydropyridine receptor Calcium channel-ryanodine receptor Calcium channel-ryanodine receptor Calcium channel

AD

7q35

CLC-1

Chloride channel

32

AR

7q35

CLC-1

Chloride channel

32

AD

11q13

KCNE3

Potassium channel

33

AD AD

12p13 17q23

KCNA1 KCNJ2

Potassium channel Potassium channel

34 35

AR

11p15.5

KCNQ1

Potassium channel

36

AR AD

21q22 1p34

KCNE1 KCNQ4

Potassium channel Potassium channel

37 38

AD

2q24-q32

CHRNA

39

AD AD

17p11-p12 17p13

CHRNB1 CHRNE

Acetylcholine receptor (AChR) a subunit AChR b subunit AChR e subunit

AR AR

17p13 17p13

CHRNE CHRNE

AChR e subunit AChR e subunit

Chloride channel Myotonia congenita–Thomsens disease Myotonia congenita–Becker’s myotonia Potassium channel Hypokalaemic periodic paralysis, type 3 Familial generalised myokymia Andersen’s syndrome-periodic paralysis and cardiac arrhythmia Jervell & Lange-Nielsen syndrome— Long QT and deafness Autosomal dominant deafness type 2 Congenital myasthenic syndromes Slow channel syndromes

Fast channel syndrome Acetylcholine receptor deficiency

AR: autosomal recessive; AD: autosomal dominant; X: X-linked.

29 30 30 31

40 41 42 43

Central nervous system/neuromuscular channelopathies

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37.

38.

39.

40.

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S.M. Zuberi

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