2010

miRNA DATABASE
Juvenile Myoclonic Epilepsy (JME) 2.Epilepsy
Idiopathic Generalised (EIG)
[Summary sheet of the various sub-types including the genes involved, the gene-
map locus as well the miRNA present within that locus, if any.]

1. Karam S. Singh 2. Nawaz Y. Islam 3. Chichano T. Odyuo

North Eastern Hill University, Shillong
8/16/2010
 TYPE GENE DESCRIPTION GENE MAP miRNA MIM ID#
INVOLVED LOCUS

EFHC1 EF-hand domain 6p12-p11 - 254770

Juvenile (6p12.3) (C-terminal) containing 1
Myoclonic
Epilepsy EJM2 Epilepsy, juvenile 15q14 MIR1233 604827
(JME) (15q14) myoclonic 2

6p21 MIR1275 608816

(6p21.32-
6p21.31)

EJM4 Myoclonic epilepsy, MIR582

(5q12-q14) juvenile, 4. MIR449B

GABRA1 Gamma-aminobutyric - 137160

(5q34-q35) acid (GABA) A receptor,
alpha 1

CACNB4 Calcium channel, voltage- -

(2q22-q23) dependent, beta 4
subunit

GABRD Gamma-aminobutyric 1p36.3 - 613060

(1p36.3) acid (GABA) A receptor,
delta

CLCN2 Susceptibility to 3q26 MIR1224 607628

(3q27-q28) idiopathic generalized
epilepsy-11 (EIG11),
juvenile myoclonic
epilepsy-8 (EJM8), and
juvenile absence
epilepsy-2 (EJA2) may be
conferred by variation in
the chloride channel-2
gene (CLCN2) on
chromosome 3q36.

TYPES SUB – GENE DESCRIPTION GENE MIM ID# miRNA Sequence of the miRNA
TYPE INVOLV MAP
ED LOCUS
 EIG – 1 KCNQ3 18q21 600669 MIR122 >hsa-miR-122 MIMAT0000421
Epile (8q24) MIRN122A UGGAGUGUGACAAUGGUGUUUG
psy,
Idiop EIG – 2 EIG2 Epilepsy, 14q23 606972 - -
(14q23) idiopathic
athic generalized
Gene susceptibility
to 2.
ralize EIG – 3 EIG3 Epilepsy, 9q32-q33 608762 MIR455 >hsa-miR-455-5p
(9q32- idiopathic MIMAT0003150
d q33) generalized,
UAUGUGCCUUUGGACUACAUCG

(EIG) susceptibility
to 3
EIG – 4 EIG4 Epilepsy, 10q25 609750 MIR608 >hsa-miR-608 MIMAT0003276
(10q25- idiopathic -q26 MIR609 AGGGGUGGUGUUGGGACAGCUCCGU
>hsa-miR-609 MIMAT0003277
q26) generalized, MIR936 AGGGUGUUUCUCUCAUCUCU
susceptibility >hsa-miR-936 MIMAT0004979
to 4 ACAGUAGAGGGAGGAAUCGCAG

EIG – 5 EIG5 Epilepsy, 10p11.22 611934 - -

(10p11. idiopathic
22) generalized,
susceptibility
to, 5
EIG – 6 CACNA1 Calcium 16p13.3 611942 - -
H channel,
(16p13. voltage-
3) dependent, T
type, alpha 1H
subunit
EIG – 7 15q14 604827 MIR1233 >hsa-miR-1233 MIMAT0005588
EJM2 UGAGCCCUGUCCUCCCGCAG
(15q14)

EIG – 8
CASR

EIG – 9 CACNB4 Calcium 2q22-q23 607682 MIR1978

(2q22- channel, (2q23.1)
q23) voltage-
dependent,
beta 4 subunit
EIG - GABRD Gamma- 1p36.3 613060 MIR551A >hsa-miR-551a MIMAT0003214
10 (1p36.3) aminobutyric GCGACCCACUCUUGGUUUCCA
acid (GABA) A
receptor, delta
EIG - CLCN2 Chloride 3q26 607628 MIR1224 >hsa-miR-1224-3p
11 (3q27- channel 2 MIMAT0005459
CCCCACCUCCUCUCUCCUCAG
q28)
GENE MAP for JME – 1 (Source: NCBI Map Viewer)
GENE MAP for JME –3 (Source: NCBI Map Viewer)
There is a similarity with some of the families of Juvenile Myoclonic Epilepsy and Epilepsy Idiopathic Generalized. The
genes involved as well as the locus stands similar. The miRNA’s present in both the locus are the same.