IHHS
MCID: IDP067
MIFTS: 19

Idiopathic Hemiconvulsion-Hemiplegia Syndrome (IHHS)

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

MalaCards integrated aliases for Idiopathic Hemiconvulsion-Hemiplegia Syndrome:

Name: Idiopathic Hemiconvulsion-Hemiplegia Syndrome 58 5
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome 58
Hemiplegia-Hemiconvulsion-Epilepsy Syndrome 71
Hhe Syndrome 58
Ihhs 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 32 G40.4
UMLS via Orphanet 72 C0549118
Orphanet 58 ORPHA86908
UMLS 71 C0549118

Summaries for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Orphanet: 58 A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.

MalaCards based summary: Idiopathic Hemiconvulsion-Hemiplegia Syndrome, also known as hemiconvulsion-hemiplegia-epilepsy syndrome, is related to epilepsy and brain edema. Affiliated tissues include brain, hypothalamus and liver.

Related Diseases for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Graphical network of the top 20 diseases related to Idiopathic Hemiconvulsion-Hemiplegia Syndrome:



Diseases related to Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Symptoms & Phenotypes for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Drugs & Therapeutics for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Search Clinical Trials, NIH Clinical Center for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Genetic Tests for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Anatomical Context for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Organs/tissues related to Idiopathic Hemiconvulsion-Hemiplegia Syndrome:

MalaCards : Brain, Hypothalamus, Liver, Heart

Publications for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Articles related to Idiopathic Hemiconvulsion-Hemiplegia Syndrome:

(show top 50) (show all 99)
# Title Authors PMID Year
1
Child Neurology: Hemiconvulsion-Hemiplegia-Epilepsy Syndrome in the Setting of COVID-19 Infection and Multisystem Inflammatory Syndrome. 62
36008144 2022
2
Fever, Seizures and Encephalopathy: From Bush Fires to Firestorms. 62
36211150 2022
3
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency. 62
35869793 2022
4
Hemiconvulsion Hemiplegia Epilepsy (HHE) Syndrome after Perinatal Hypoxic-Ischemic Injury. 62
35583629 2022
5
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. 62
35503717 2022
6
Infantile hepatic hemangiomas: looking backwards and forwards. 62
35692445 2022
7
Hemiconvulsion-hemiplegia-epilepsy syndrome with 5q33.3q34 microdeletion: Causal or chance association. 62
33866597 2021
8
Infant with right hemiplegia due to acute encephalopathy with biphasic seizures and late reduced diffusion (AESD): A case report. 62
34087819 2021
9
Responsiveness to Hedgehog Pathway Inhibitors in T-Cell Acute Lymphoblastic Leukemia Cells Is Highly Dependent on 5'AMP-Activated Kinase Inactivation. 62
34203724 2021
10
Development of Nanosensors Based Intelligent Packaging Systems: Food Quality and Medicine. 62
34201071 2021
11
Hemiconvulsion-hemiplegia-epilepsy Syndrome: A Case Series. 62
33531945 2020
12
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome in Adult with Uncontrolled Seizures and Phenytoin Toxicity. 62
32499971 2020
13
CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes. 62
33425808 2020
14
[Hemiconvulsion-hemiplegia-epilepsy syndrome: case report and use of dextromethorphan]. 62
31762002 2019
15
Feasibility of using a novel instrumented human head surrogate to measure helmet, head and brain kinematics and intracranial pressure during multidirectional impact tests. 62
31272916 2019
16
EEG lateralization and seizure outcome following peri-insular hemispherotomy for pediatric hemispheric epilepsy. 62
30701299 2019
17
Hemiconvulsion-hemiplegia-epilepsy syndrome in Niger: A retrospective case series. 62
30890411 2019
18
Combination therapy of propranolol, levothyroxine, and liothyronine was effective in a case of severe consumptive hypothyroidism associated with infantile hepatic hemangioma. 62
30745728 2019
19
Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIId. 62
31824410 2019
20
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU. 62
29858110 2018
21
Severe consumptive hypothyroidism caused by multiple infantile hepatic haemangiomas. 62
29953409 2018
22
Hemiconvulsion Hemiplegia Syndrome in a young boy with developmental delay. 62
29808062 2018
23
Understanding Patient Experience With Hyperhidrosis: A National Survey of 1,985 Patients. 62
29601615 2018
24
Clinical aspects, neuroimaging, and electroencephalography of 35 cases of hemiconvulsion-hemiplegia syndrome. 62
29414550 2018
25
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome in a Girl Presented with Complex Partial Seizures. 62
30353904 2017
26
Hemiconvulsion-hemiplegia-epilepsy syndrome in a child with pre-existing cerebral pathology. 62
28652222 2017
27
The Hemiconvulsions-Hemiplegia-Epilepsy (HHE) syndrome: a transcranial magnetic stimulation-EEG study. 62
30455564 2017
28
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome. 62
28043687 2017
29
Survival following decompressive hemicraniectomy for hemiconvulsion-hemiplegia-epilepsy syndrome: case report. 62
27176609 2016
30
History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis. 62
27610342 2016
31
Protein kinase STK25 controls lipid partitioning in hepatocytes and correlates with liver fat content in humans. 62
26553096 2016
32
Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome. 62
27199890 2016
33
An autopsy case of hemiconvulsion-hemiplegia-epilepsy syndrome manifesting as cerebral hemiatrophy in an elderly man. 62
26179932 2015
34
ACTH therapy on intractable epilepsy in Hemiconvulsion-Hemiplegia-Epilepsy syndrome. 62
25476246 2015
35
16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report. 62
24453159 2015
36
Seizures in patients with cerebral hemiatrophy: A prognostic evaluation. 62
25745309 2015
37
[Hemiconvulsion-hemiplegia-epilepsy syndrome in a girl with adrenogenital syndrome]. 62
25534218 2014
38
[Hemiconvulsion-hemiplegia-epilepsy syndrome]. 62
25534340 2014
39
Silencing of ANGPTL 3 (angiopoietin-like protein 3) in human hepatocytes results in decreased expression of gluconeogenic genes and reduced triacylglycerol-rich VLDL secretion upon insulin stimulation. 62
25495645 2014
40
Resources for hyperhidrosis sufferers, patients, and health care providers. 62
25152350 2014
41
Childhood stroke: results of 130 children from a reference center in Central Anatolia, Turkey. 62
24842257 2014
42
Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia. 62
24355077 2014
43
Hemiconvulsion-hemiplegia-epilepsy syndrome: clinical course and neuroradiological features in a 20-month-old girl. 62
24614781 2014
44
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association. 62
24214579 2014
45
Hemiconvulsion-hemiplegia-epilepsy syndrome. Magnetic resonance findings in a 3-year-old boy. 62
24375005 2013
46
Ketogenic diet in 3 cases of childhood refractory status epilepticus. 62
23751291 2013
47
Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome. 62
23916143 2013
48
FIRES and IHHE: Delineation of the syndromes. 62
24001074 2013
49
Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study. 62
22982002 2013
50
Hemiconvulsion-hemiplegia-epilepsy syndrome with initially normal magnetic resonance imaging. 62
23143783 2013

Variations for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

ClinVar genetic disease variations for Idiopathic Hemiconvulsion-Hemiplegia Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1A NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val) SNV Not Provided
684467 rs1600353470 GRCh37: 19:13443739-13443739
GRCh38: 19:13332925-13332925

Expression for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Search GEO for disease gene expression data for Idiopathic Hemiconvulsion-Hemiplegia Syndrome.

Pathways for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

GO Terms for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

Sources for Idiopathic Hemiconvulsion-Hemiplegia Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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