MCID: SLC039
MIFTS: 11

Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures

Aliases & Classifications for Slc12a5-Related Epilepsy of Infancy with Migrating Focal...

MalaCards integrated aliases for Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures:

Name: Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures 24
Early-Infantile Epileptic Encephalopathy 34 24
Slc12a5-Eimfs 24
Eiee34 24

Summaries for Slc12a5-Related Epilepsy of Infancy with Migrating Focal...

MalaCards based summary : Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures, also known as early-infantile epileptic encephalopathy 34, is related to gastroesophageal reflux and epileptic encephalopathy, early infantile, 34. An important gene associated with Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures is SLC12A5 (Solute Carrier Family 12 Member 5). Affiliated tissues include brain.

GeneReviews: NBK537476

Related Diseases for Slc12a5-Related Epilepsy of Infancy with Migrating Focal...

Diseases related to Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gastroesophageal reflux 10.4
2 epileptic encephalopathy, early infantile, 34 10.4
3 scoliosis 10.4
4 visual epilepsy 10.4
5 epilepsy 10.4
6 microcephaly 10.4
7 malignant migrating partial seizures of infancy 10.4
8 hypotonia 10.4
9 seizure disorder 10.4

Graphical network of the top 20 diseases related to Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures:



Diseases related to Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures

Symptoms & Phenotypes for Slc12a5-Related Epilepsy of Infancy with Migrating Focal...

Drugs & Therapeutics for Slc12a5-Related Epilepsy of Infancy with Migrating Focal...

Search Clinical Trials , NIH Clinical Center for Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures

Genetic Tests for Slc12a5-Related Epilepsy of Infancy with Migrating Focal...

Anatomical Context for Slc12a5-Related Epilepsy of Infancy with Migrating Focal...

MalaCards organs/tissues related to Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures:

41
Brain

Publications for Slc12a5-Related Epilepsy of Infancy with Migrating Focal...

Articles related to Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures:

(show all 45)
# Title Authors PMID Year
1
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins. 4
29444535 2018
2
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. 4
29196579 2018
3
A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures. 4
28477354 2017
4
Seizing Control of KCC2: A New Therapeutic Target for Epilepsy. 4
28803659 2017
5
Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype. 4
28677859 2017
6
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 4
28379373 2017
7
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. 4
27172925 2016
8
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. 4
27436767 2016
9
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 4
26740507 2016
10
The genetic landscape of the epileptic encephalopathies of infancy and childhood. 4
26597089 2016
11
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 4
26291284 2015
12
Mutations in KCNT1 cause a spectrum of focal epilepsies. 4
26122718 2015
13
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. 4
26333769 2015
14
Epilepsy of infancy with migrating focal seizures: three patients treated with the ketogenic diet. 4
25895661 2015
15
Pure cannabidiol in the treatment of malignant migrating partial seizures in infancy: a case report. 4
25882081 2015
16
The phenotypic spectrum of SCN8A encephalopathy. 4
25568300 2015
17
Epilepsy of infancy with migrating focal seizures: six patients treated with bromide. 4
25044045 2014
18
Cortical GABAergic excitation contributes to epileptic activities around human glioma. 4
25009229 2014
19
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. 4
24928908 2014
20
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 4
24888894 2014
21
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. 4
24668262 2014
22
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. 4
24656866 2014
23
SLC25A22 is a novel gene for migrating partial seizures in infancy. 4
24596948 2013
24
Potassium bromide for treatment of malignant migrating partial seizures in infancy. 4
23968569 2013
25
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 4
23526554 2013
26
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. 4
23599387 2013
27
Malignant migrating partial seizures of infancy controlled by stiripentol and clonazepam. 4
22521903 2013
28
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 4
23086397 2012
29
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. 4
22690784 2012
30
Migrating focal seizures during infancy: a case report and pathologic study. 4
22353295 2012
31
Role of the neuronal K-Cl co-transporter KCC2 in inhibitory and excitatory neurotransmission. 4
22363264 2012
32
Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy. 4
21636251 2011
33
De novo SCN1A mutations in migrating partial seizures of infancy. 4
21753172 2011
34
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. 4
21555645 2011
35
The efficacy of bromides, stiripentol and levetiracetam in two patients with malignant migrating partial seizures in infancy. 4
21393091 2011
36
Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases. 4
21393094 2011
37
Intravenous levetiracetam terminates refractory status epilepticus in two patients with migrating partial seizures in infancy. 4
19520548 2009
38
Coexpression and heteromerization of two neuronal K-Cl cotransporter isoforms in neonatal brain. 4
19307176 2009
39
A novel N-terminal isoform of the neuron-specific K-Cl cotransporter KCC2. 4
17715129 2007
40
Behavioural phenotypes of hypomorphic KCC2-deficient mice. 4
15813942 2005
41
Hyperexcitability and epilepsy associated with disruption of the mouse neuronal-specific K-Cl cotransporter gene. 4
12000122 2002
42
Disruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition. 4
11395011 2001
43
Molecular characterization of a putative K-Cl cotransporter in rat brain. A neuronal-specific isoform. 4
8663311 1996
44
Migrating partial seizures in infancy: a malignant disorder with developmental arrest. 4
7555952 1995
45
SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures 38
30763027 2019

Variations for Slc12a5-Related Epilepsy of Infancy with Migrating Focal...

Expression for Slc12a5-Related Epilepsy of Infancy with Migrating Focal...

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