Developmental and Epileptic Encephalopathy 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DEE14 MCID: DVL042 MIFTS: 50	Developmental and Epileptic Encephalopathy 14 (DEE14) Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Developmental and Epileptic Encephalopathy 14

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 14:

Name: Developmental and Epileptic Encephalopathy 14 ⁵⁷ ¹²

Early Infantile Epileptic Encephalopathy 14 ¹² ²⁹ ⁶ ¹⁵

Epileptic Encephalopathy, Early Infantile, 14 ⁵⁷ ⁷³ ¹³

Eiee14 ⁵⁷ ⁷³

Dee14 ⁵⁷ ¹²

Epileptic Encephalopathy, Early Infantile, 14; Eiee14 ⁵⁷

Encephalopathy, Epileptic, Early Infantile, Type 14 ³⁹

Malignant Migrating Partial Seizures of Infancy ⁷³

Mmpsi ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
de novo mutation
seizures are refractory to treatment
onset of seizures in first 6 months of life
seizures become nearly continuous
normal development until onset of seizures
variable ictal semiology

HPO:

³¹

developmental and epileptic encephalopathy 14:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Ear diseases Respiratory diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080439

OMIM® ⁵⁷ 614959

OMIM Phenotypic Series ⁵⁷ PS308350

MeSH ⁴⁴ D013036

MedGen ⁴¹ C3554195 CN162969

SNOMED-CT via HPO ⁶⁸ 11538006 135810007 204043002 more

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Summaries for Developmental and Epileptic Encephalopathy 14

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-14 (DEE14) is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (614959) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 14, also known as early infantile epileptic encephalopathy 14, is related to malignant migrating partial seizures of infancy and seizure disorder, and has symptoms including clonus and twitching of facial muscles. An important gene associated with Developmental and Epileptic Encephalopathy 14 is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1), and among its related pathways/superpathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include eye, and related phenotypes are poor eye contact and spasticity

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has material basis in heterozygous mutation in the KCNT1 gene on chromosome 9q34.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 14: A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another.

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Related Diseases for Developmental and Epileptic Encephalopathy 14

Diseases in the Developmental and Epileptic Encephalopathy family:

Diseases related to Developmental and Epileptic Encephalopathy 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 137)

#	Related Disease	Score	Top Affiliating Genes
1	malignant migrating partial seizures of infancy	32.2	SCN2A SCN1A KCNT1
2	seizure disorder	29.9	SCN8A SCN2A SCN1A MECP2 DEPDC5 CHRNA4
3	encephalopathy	29.5	SCN8A SCN2A SCN1A MECP2 KCNT1 CDKL5
4	autosomal dominant nocturnal frontal lobe epilepsy	29.1	SCN8A SCN2A SCN1A KCNT1 KCNA1 DEPDC5
5	early myoclonic encephalopathy	29.1	SCN8A SCN2A SCN1A MECP2 KCNT1 KCNA1
6	alacrima, achalasia, and mental retardation syndrome	28.8	SMARCA4 SMARCA2 SCN2A SCN1A MECP2 DEPDC5
7	dravet syndrome	28.3	SCN8A SCN5A SCN2A SCN1A MECP2 KCNT1
8	developmental and epileptic encephalopathy 12	10.9
9	slc12a5-related epilepsy of infancy with migrating focal seizures	10.5
10	status epilepticus	10.4
11	hereditary episodic ataxia	10.2	SCN2A KCNA1
12	nicolaides-baraitser syndrome	10.2	SMARCA2 CDKL5
13	myoclonic epilepsy of infancy	10.2	SCN8A SCN1A
14	developmental and epileptic encephalopathy 16	10.2
15	hypokalemia	10.2
16	kcnt1-related epilepsy	10.2
17	tbc1d24-related disorders	10.2
18	genetic epilepsy with febrile seizures plus	10.2	SCN2A SCN1A
19	febrile seizures, familial, 5	10.2	SCN2A SCN1A
20	gait apraxia	10.2	MECP2 CDKL5
21	febrile seizures, familial, 2	10.1	SCN2A SCN1A
22	juvenile absence epilepsy	10.1	SCN1A CHRNA4
23	alzheimer disease 9	10.1	SCN1A KCNA1
24	torsion dystonia 4	10.1	MECP2 KCNT1
25	developmental and epileptic encephalopathy 9	10.1	SCN1A KCNT1 CDKL5
26	gene duplication disease	10.1	MECP2 CDKL5
27	epilepsy, nocturnal frontal lobe, 1	10.1	SCN1A KCNA1 CHRNA4
28	chromosome 16p11.2 deletion syndrome	10.1	KCNT1 DEPDC5
29	christianson syndrome	10.1	MECP2 CDKL5
30	reflex epilepsy	10.1	SCN2A SCN1A CHRNA4
31	febrile seizures, familial, 1	10.1	SCN2A SCN1A CHRNA4
32	febrile seizures	10.1	SCN8A SCN2A SCN1A
33	familial short qt syndrome	10.1	KCNQ1 KCNH2
34	adolescence-adult electroclinical syndrome	10.1	SCN2A SCN1A CHRNA4
35	epilepsy with generalized tonic-clonic seizures	10.0	SCN2A SCN1A CDKL5
36	developmental and epileptic encephalopathy 13	10.0	SCN8A SCN2A SCN1A
37	low-grade astrocytoma	10.0	SCN8A SCN2A SCN1A
38	trigeminal nerve disease	10.0	SCN8A SCN2A SCN1A
39	familial febrile seizures	10.0	SCN2A SCN1A CHRNA4
40	generalized epilepsy with febrile seizures plus, type 7	10.0	SCN8A SCN1A
41	trigeminal neuralgia	10.0	SCN8A SCN1A
42	familial periodic paralysis	10.0	SCN5A SCN2A
43	migraine with aura	10.0	SCN2A SCN1A KCNA1
44	first-degree atrioventricular block	10.0	SCN5A KCNH2
45	encephalopathy due to defective mitochondrial and peroxisomal fission 1	10.0	SCN1A MECP2 CDKL5
46	smarca4-deficient sarcoma of thorax	10.0	SMARCA4 SMARCA2
47	developmental and epileptic encephalopathy	10.0	SCN8A SCN1A CHRNA4 CDKL5
48	basan syndrome	9.9	SMARCA4 SMARCA2
49	third-degree atrioventricular block	9.9	SCN5A KCNH2
50	juvenile type testicular granulosa cell tumor	9.9	SMARCA4 SMARCA2

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 14:

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Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 14

Human phenotypes related to Developmental and Epileptic Encephalopathy 14:

³¹ (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	poor eye contact ³¹	occasional (7.5%)	HP:0000817
2	spasticity ³¹		HP:0001257
3	clonus ³¹		HP:0002169
4	tetraplegia ³¹		HP:0002445
5	developmental regression ³¹		HP:0002376
6	microcephaly ³¹		HP:0000252
7	cerebral cortical atrophy ³¹		HP:0002120
8	hypoplasia of the corpus callosum ³¹		HP:0002079
9	status epilepticus ³¹		HP:0002133
10	generalized hypotonia ³¹		HP:0001290
11	epileptic encephalopathy ³¹		HP:0200134
12	neuronal loss in central nervous system ³¹		HP:0002529
13	delayed myelination ³¹		HP:0012448
14	gliosis ³¹		HP:0002171

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
hyperreflexia
clonus
status epilepticus
hypotonia
spasticity of the lower limbs
more

Muscle Soft Tissue:
hypotonia

Head And Neck Face:
facial twitching

Head And Neck Head:
microcephaly

Head And Neck Eyes:
staring
eye deviation
poor eye contact (in some patients)

Clinical features from OMIM®:

614959 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 14:

clonus, twitching of facial muscles

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 14:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.11	CDKL5 CHRNA4 DEPDC5 KCNA1 KCNQ1 KCNT1
2	growth/size/body region	MP:0005378	10.06	DEPDC5 KCNA1 KCNH2 KCNQ1 MECP2 SCN1A
3	mortality/aging	MP:0010768	10	CHRNA4 DEPDC5 KCNA1 KCNH2 MECP2 SCN1A
4	nervous system	MP:0003631	9.73	CDKL5 CHRNA4 DEPDC5 KCNA1 KCNQ1 KCNT1
5	muscle	MP:0005369	9.7	KCNA1 KCNH2 KCNQ1 SCN5A SCN8A SMARCA2
6	respiratory system	MP:0005388	9.1	MECP2 SCN1A SCN2A SCN5A SCN8A SMARCA4

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Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 14

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 14

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Genetic Tests for Developmental and Epileptic Encephalopathy 14

Genetic tests related to Developmental and Epileptic Encephalopathy 14:

#	Genetic test	Affiliating Genes
1	Early Infantile Epileptic Encephalopathy 14 ²⁹	KCNT1

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Anatomical Context for Developmental and Epileptic Encephalopathy 14

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 14:

⁴⁰

Eye

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Publications for Developmental and Epileptic Encephalopathy 14

Articles related to Developmental and Epileptic Encephalopathy 14:

(show all 19)

#	Title	Authors	PMID	Year
1	De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. ⁶¹ ⁶ ⁵⁷	Barcia G...Nabbout R	23086397	2012
2	Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. ⁵⁷ ⁶	Vanderver A...Taft RJ	24120652	2014
3	A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. ⁵⁷ ⁶	Ishii A...Yamamoto T	24029078	2013
4	A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. ⁵⁷ ⁶¹	Lee EH...Ko TS	22197566	2012
5	Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome. ⁵⁷	Marsh E...Clancy RR	15816952	2005
6	Migrating partial seizures in infancy: two new cases. ⁵⁷	Wilmshurst JM...Grattan-Smith PJ	11108504	2000
7	Migrating partial seizures in infancy: a malignant disorder with developmental arrest. ⁵⁷	Coppola G...Dulac O	7555952	1995
8	A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures. ⁶¹	Madaan P...Gulati S	29037447	2018
9	Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy. ⁶¹	Rizzo F...Weisz A	26784557	2016
10	Early onset epileptic encephalopathy caused by de novo SCN8A mutations. ⁶¹	Ohba C...Saitsu H	24888894	2014
11	Lack of pathogenic mutations in six patients with MMPSI. ⁶¹	De Filippo MR...Coppola G	24315024	2014
12	Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. ⁶¹	Milh M...Fassio A	23526554	2013
13	KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes. ⁶¹	Aminkeng F	23278465	2013
14	Malignant migrating partial seizures of infancy controlled by stiripentol and clonazepam. ⁶¹	Merdariu D...Auvin S	22521903	2013
15	Malignant migrating partial seizures in infancy. ⁶¹	Coppola G	23622207	2013
16	[The syndrome of malignant migrating partial seizures in infancy or Coppola-Dulac syndrome (19 cases)]. ⁶¹	Kholin AA	23612406	2013
17	Design of nateglinide controlled release tablet containing erosion matrix tablet and multiple administration study in normal beagle dogs. ⁶¹	Makino C...Yabuki A	19721250	2009
18	A novel nonpeptidic caspase-3/7 inhibitor, (S)-(+)-5-[1-(2-methoxymethylpyrrolidinyl)sulfonyl]isatin reduces myocardial ischemic injury. ⁶¹	Chapman JG...Tracey WR	12450570	2002
19	Successful control with bromide of two patients with malignant migrating partial seizures in infancy. ⁶¹	Okuda K...Kobayashi Y	10761836	2000

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Genes for Developmental and Epileptic Encephalopathy 14

Genes related to Developmental and Epileptic Encephalopathy 14 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNT1	Potassium Sodium-Activated Channel Subfamily T Member 1	Protein Coding	1331.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵	23086397
2	DEPDC5	DEP Domain Containing 5, GATOR1 Subcomplex Subunit	Protein Coding	5.3	DISEASES inferred ¹⁵
3	CHRNA4	Cholinergic Receptor Nicotinic Alpha 4 Subunit	Protein Coding	5.1	DISEASES inferred ¹⁵
4	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	4.94	DISEASES inferred ¹⁵
5	KCNA1	Potassium Voltage-Gated Channel Subfamily A Member 1	Protein Coding	4.75	DISEASES inferred ¹⁵
6	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	4.73	DISEASES inferred ¹⁵
7	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	4.55	DISEASES inferred ¹⁵
8	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	4.5	DISEASES inferred ¹⁵
9	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	4.36	DISEASES inferred ¹⁵
10	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	4.21	DISEASES inferred ¹⁵
11	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	4.19	DISEASES inferred ¹⁵
12	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	4.15	DISEASES inferred ¹⁵
13	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	4.05	DISEASES inferred ¹⁵
14	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	3.97	DISEASES inferred ¹⁵

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Variations for Developmental and Epileptic Encephalopathy 14

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 14:

⁶ (show top 50) (show all 513)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KCNT1	NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met)	SNV	Pathogenic	39596	rs370521183	9:138667192-138667192	9:135775346-135775346
2	KCNT1	NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile)	SNV	Pathogenic	92165	rs886044717	9:138671269-138671269	9:135779423-135779423
3	KCNT1	NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)	SNV	Pathogenic	126421	rs587777264	9:138651532-138651532	9:135759686-135759686
4	KCNT1	NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)	SNV	Pathogenic	39593		9:138657552-138657552	9:135765706-135765706
5	KCNT1	NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)	SNV	Pathogenic	39594	rs397515403	9:138671275-138671275	9:135779429-135779429
6	KCNT1	NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg)	SNV	Pathogenic	412308	rs1060503696	9:138670626-138670626	9:135778780-135778780
7	KCNT1	NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu)	SNV	Pathogenic	473378	rs886043455	9:138675877-138675877	9:135784031-135784031
8	KCNT1	NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	SNV	Pathogenic	39595		9:138660694-138660694	9:135768848-135768848
9	KCNT1	NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)	SNV	Pathogenic	286710		9:138675877-138675877	9:135784031-135784031
10	KCNT1	NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)	SNV	Pathogenic	126421	rs587777264	9:138651532-138651532	9:135759686-135759686
11	KCNT1	NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)	SNV	Pathogenic	39594	rs397515403	9:138671275-138671275	9:135779429-135779429
12	KCNT1	NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)	SNV	Pathogenic	39593		9:138657552-138657552	9:135765706-135765706
13	KCNT1	NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys)	SNV	Pathogenic	265210	rs866242631	9:138660693-138660693	9:135768847-135768847
14	KCNT1	NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg)	SNV	Pathogenic	655949	rs1588385233	9:138670656-138670656	9:135778810-135778810
15	KCNT1	NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)	SNV	Pathogenic	286710		9:138675877-138675877	9:135784031-135784031
16	KCNT1	NM_020822.3(KCNT1):c.2943+1G>C	SNV	Pathogenic	853172		9:138675972-138675972	9:135784126-135784126
17	KCNT1	NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu)	SNV	Pathogenic	853550		9:138656879-138656879	9:135765033-135765033
18	KCNT1	NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)	SNV	Pathogenic	432096	rs1554771469	9:138650285-138650285	9:135758439-135758439
19	KCNT1	NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)	SNV	Pathogenic	280499	rs886041691	9:138661828-138661828	9:135769982-135769982
20	KCNT1	NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	SNV	Pathogenic	39599	rs397515407	9:138657034-138657034	9:135765188-135765188
21	KCNT1	NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	SNV	Pathogenic	39599	rs397515407	9:138657034-138657034	9:135765188-135765188
22	KCNT1	NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)	SNV	Pathogenic	39598	rs397515406	9:138669220-138669220	9:135777374-135777374
23	KCNT1	NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)	SNV	Pathogenic	39597	rs397515405	9:138671257-138671257	9:135779411-135779411
24	KCNT1	NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	SNV	Pathogenic/Likely pathogenic	39595		9:138660694-138660694	9:135768848-135768848
25	KCNT1	NM_020822.3(KCNT1):c.1406A>T (p.His469Leu)	SNV	Likely pathogenic	496671	rs1554774322	9:138660679-138660679	9:135768833-135768833
26	KCNT1	NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)	SNV	Likely pathogenic	129360	rs200694691	9:138675910-138675910	9:135784064-135784064
27	KCNT1	NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln)	SNV	Likely pathogenic	870208		9:138662818-138662818	9:135770972-135770972
28	KCNT1	NM_020822.3(KCNT1):c.1016T>G (p.Leu339Arg)	SNV	Likely pathogenic	929407		9:138651686-138651686	9:135759840-135759840
29	KCNT1	NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)	SNV	Likely pathogenic	662662	rs1588344733	9:138657494-138657494	9:135765648-135765648
30	KCNT1	NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)	SNV	Likely pathogenic	813753		9:138670625-138670625	9:135778779-135778779
31	KCNT1	NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)	SNV	Likely pathogenic	813756		9:138667253-138667253	9:135775407-135775407
32	KCNT1	NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)	SNV	Likely pathogenic	813759		9:138670617-138670617	9:135778771-135778771
33	KCNT1	NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)	SNV	Likely pathogenic	802536	rs1193627908	9:138678203-138678203	9:135786357-135786357
34	KCNT1	NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp)	SNV	Likely pathogenic	937909		9:138594177-138594177	9:135702331-135702331
35	KCNT1	NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu)	SNV	Likely pathogenic	948652		9:138656879-138656879	9:135765033-135765033
36	KCNT1	NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)	SNV	Conflicting interpretations of pathogenicity	193922	rs146070496	9:138651559-138651559	9:135759713-135759713
37	KCNT1	NM_020822.3(KCNT1):c.2595-9C>T	SNV	Conflicting interpretations of pathogenicity	385486	rs369966222	9:138670525-138670525	9:135778679-135778679
38	KCNT1	NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp)	SNV	Conflicting interpretations of pathogenicity	389450	rs752514808	9:138656907-138656907	9:135765061-135765061
39	KCNT1	NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)	SNV	Uncertain significance	642169	rs375749415	9:138676731-138676731	9:135784885-135784885
40	KCNT1	NM_020822.3(KCNT1):c.110+1G>C	SNV	Uncertain significance	642324	rs780331569	9:138594215-138594215	9:135702369-135702369
41	KCNT1	NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu)	SNV	Uncertain significance	642999	rs997774104	9:138675916-138675916	9:135784070-135784070
42	KCNT1	NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln)	SNV	Uncertain significance	643691	rs750176430	9:138678325-138678325	9:135786479-135786479
43	KCNT1	NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser)	SNV	Uncertain significance	643923	rs748115007	9:138678151-138678151	9:135786305-135786305
44	KCNT1	NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu)	SNV	Uncertain significance	644031	rs1588401995	9:138676657-138676657	9:135784811-135784811
45	KCNT1	NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His)	SNV	Uncertain significance	548573	rs373365707	9:138676638-138676638	9:135784792-135784792
46	KCNT1	NM_020822.3(KCNT1):c.1652G>A (p.Arg551His)	SNV	Uncertain significance	646949	rs567764094	9:138662176-138662176	9:135770330-135770330
47	KCNT1	NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp)	SNV	Uncertain significance	647099	rs755348603	9:138606523-138606523	9:135714677-135714677
48	KCNT1	NM_020822.3(KCNT1):c.398G>A (p.Arg133His)	SNV	Uncertain significance	648163	rs201295824	9:138642851-138642851	9:135751005-135751005
49	KCNT1	NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys)	SNV	Uncertain significance	648535	rs776232246	9:138678109-138678109	9:135786263-135786263
50	KCNT1	NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro)	SNV	Uncertain significance	626126	rs917893164	9:138678112-138678112	9:135786266-135786266

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 14:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	KCNT1	p.Arg409Gln	VAR_069312	rs397515402
2	KCNT1	p.Arg455His	VAR_069313	rs397515404
3	KCNT1	p.Ile741Met	VAR_069314	rs370521183
4	KCNT1	p.Ala915Thr	VAR_069318	rs397515403
5	KCNT1	p.Met497Val	VAR_078214	rs886041691
6	KCNT1	p.Lys928Glu	VAR_078215	rs105751954
7	KCNT1	p.Gly269Ser	VAR_078683	rs587777264
8	KCNT1	p.Ala947Thr	VAR_078685	rs142478877

Sources

Expression for Developmental and Epileptic Encephalopathy 14

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 14.

Sources

Pathways for Developmental and Epileptic Encephalopathy 14

Pathways related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.46	SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2
2	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶³ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶³ Cholera Infection ⁶³	12.39	SCN8A SCN5A SCN2A SCN1A KCNT1
3	Neuroscience ⁴	12.3	SCN8A SCN5A SCN2A SCN1A MECP2
4	Potassium Channels ⁶⁵ Show member pathways HCN channels ⁶⁵ Voltage gated Potassium channels ⁶⁵	11.8	KCNQ1 KCNH2 KCNA1
5	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.76	SCN5A MECP2 KCNQ1 KCNH2 CHRNA4
6	L1CAM interactions ⁶⁵ Show member pathways CHL1 interactions ⁶⁵ Neurofascin interactions ⁶⁵ NrCAM interactions ⁶⁵	11.72	SCN8A SCN5A SCN2A SCN1A
7	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.36	SCN5A KCNQ1 KCNH2
8	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	10.9	SCN8A SCN5A SCN2A SCN1A KCNQ1
9	Interaction between L1 and Ankyrins ⁶⁵	10.73	SCN8A SCN5A SCN2A SCN1A

Sources

GO Terms for Developmental and Epileptic Encephalopathy 14

Cellular components related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	10.24	SCN8A SCN5A SCN2A SCN1A KCNT1 KCNQ1
2	axon	GO:0030424	9.83	SCN8A SCN2A SCN1A KCNA1
3	Z disc	GO:0030018	9.67	SCN8A SCN5A SCN1A
4	voltage-gated potassium channel complex	GO:0008076	9.54	KCNQ1 KCNH2 KCNA1
5	SWI/SNF complex	GO:0016514	9.51	SMARCA4 SMARCA2
6	axon initial segment	GO:0043194	9.48	SCN8A SCN1A
7	nBAF complex	GO:0071565	9.46	SMARCA4 SMARCA2
8	npBAF complex	GO:0071564	9.43	SMARCA4 SMARCA2
9	intercalated disc	GO:0014704	9.43	SCN5A SCN2A SCN1A
10	paranode region of axon	GO:0033270	9.4	SCN2A KCNA1
11	T-tubule	GO:0030315	9.33	SCN5A SCN2A SCN1A
12	sodium channel complex	GO:0034706	9.32	SCN2A SCN1A
13	node of Ranvier	GO:0033268	9.13	SCN8A SCN2A SCN1A
14	voltage-gated sodium channel complex	GO:0001518	8.92	SCN8A SCN5A SCN2A SCN1A

Biological processes related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

(show all 34)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	9.91	SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2
2	ion transport	GO:0006811	9.91	SCN8A SCN5A SCN2A SCN1A KCNT1 KCNQ1
3	potassium ion transport	GO:0006813	9.84	KCNT1 KCNQ1 KCNH2 KCNA1
4	potassium ion transmembrane transport	GO:0071805	9.83	KCNT1 KCNQ1 KCNH2 KCNA1
5	sodium ion transport	GO:0006814	9.81	SCN8A SCN5A SCN2A SCN1A
6	regulation of membrane potential	GO:0042391	9.8	SCN1A KCNH2 KCNA1 CHRNA4
7	ion transmembrane transport	GO:0034220	9.8	SCN8A SCN5A SCN2A SCN1A KCNH2 CHRNA4
8	sodium ion transmembrane transport	GO:0035725	9.78	SCN8A SCN5A SCN2A SCN1A
9	cardiac conduction	GO:0061337	9.74	SCN5A KCNQ1 KCNH2
10	cardiac muscle contraction	GO:0060048	9.73	SCN5A KCNQ1 KCNH2
11	regulation of heart rate by cardiac conduction	GO:0086091	9.72	SCN5A KCNQ1 KCNH2
12	cation transmembrane transport	GO:0098655	9.71	SCN8A SCN5A SCN2A SCN1A
13	neuromuscular process	GO:0050905	9.66	MECP2 KCNA1
14	membrane depolarization	GO:0051899	9.66	SCN5A CHRNA4
15	action potential	GO:0001508	9.65	SCN1A CHRNA4
16	cardiac muscle cell action potential involved in contraction	GO:0086002	9.65	SCN5A SCN1A
17	potassium ion export across plasma membrane	GO:0097623	9.65	KCNQ1 KCNH2
18	positive regulation of potassium ion transmembrane transport	GO:1901381	9.64	KCNQ1 KCNH2
19	detection of mechanical stimulus involved in sensory perception of pain	GO:0050966	9.64	SCN1A KCNA1
20	regulation of gene expression by genetic imprinting	GO:0006349	9.63	MECP2 KCNQ1
21	startle response	GO:0001964	9.63	MECP2 KCNA1
22	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.63	SCN5A KCNQ1 KCNH2
23	neuromuscular process controlling posture	GO:0050884	9.62	SCN1A MECP2
24	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.62	KCNQ1 KCNH2
25	membrane repolarization	GO:0086009	9.61	KCNQ1 KCNH2
26	regulation of membrane repolarization	GO:0060306	9.61	KCNQ1 KCNH2
27	ventricular cardiac muscle cell action potential	GO:0086005	9.61	SCN5A KCNQ1 KCNH2
28	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.6	KCNQ1 KCNH2
29	atrial cardiac muscle cell action potential	GO:0086014	9.59	SCN5A KCNQ1
30	membrane repolarization during action potential	GO:0086011	9.58	KCNQ1 KCNH2
31	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.58	SCN5A KCNQ1
32	neuronal action potential	GO:0019228	9.55	SCN8A SCN5A SCN2A SCN1A KCNA1
33	regulation of ion transmembrane transport	GO:0034765	9.5	SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2
34	membrane depolarization during action potential	GO:0086010	9.02	SCN8A SCN5A SCN2A SCN1A KCNH2

Molecular functions related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium channel activity	GO:0005267	9.67	KCNT1 KCNQ1 KCNH2 KCNA1
2	voltage-gated potassium channel activity	GO:0005249	9.63	KCNQ1 KCNH2 KCNA1
3	cation channel activity	GO:0005261	9.62	SCN8A SCN5A SCN2A SCN1A
4	scaffold protein binding	GO:0097110	9.61	SCN5A KCNQ1 KCNH2
5	delayed rectifier potassium channel activity	GO:0005251	9.58	KCNQ1 KCNH2 KCNA1
6	sodium channel activity	GO:0005272	9.56	SCN8A SCN5A SCN2A SCN1A
7	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.52	KCNQ1 KCNH2
8	outward rectifier potassium channel activity	GO:0015271	9.51	KCNT1 KCNQ1
9	voltage-gated ion channel activity	GO:0005244	9.5	SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2
10	hydrolase activity, acting on acid anhydrides	GO:0016817	9.49	SMARCA4 SMARCA2
11	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.48	KCNQ1 KCNH2
12	voltage-gated sodium channel activity	GO:0005248	9.46	SCN8A SCN5A SCN2A SCN1A
13	ion channel activity	GO:0005216	9.23	SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2

Sources

Sources for Developmental and Epileptic Encephalopathy 14

¹ BioSystems

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³ CDC

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⁴¹ MedGen

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁶¹ PubMed

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⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Developmental and Epileptic Encephalopathy 14 (DEE14)

Aliases & Classifications for Developmental and Epileptic Encephalopathy 14

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 14:

Characteristics:

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Summaries for Developmental and Epileptic Encephalopathy 14

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Diseases in the Developmental and Epileptic Encephalopathy family:

Diseases related to Developmental and Epileptic Encephalopathy 14 via text searches within MalaCards or GeneCards Suite gene sharing:

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Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 14

Human phenotypes related to Developmental and Epileptic Encephalopathy 14:

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Expression for Developmental and Epileptic Encephalopathy 14

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Pathways related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

GO Terms for Developmental and Epileptic Encephalopathy 14

Cellular components related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

Biological processes related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

Molecular functions related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

Sources for Developmental and Epileptic Encephalopathy 14