Encephalopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ENC018 MIFTS: 64	Encephalopathy Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Encephalopathy

MalaCards integrated aliases for Encephalopathy:

Name: Encephalopathy ⁵² ⁷⁵ ²⁸ ⁵³ ⁵ ³⁸

Toxic Cerebrospinal Inflammation ³³

Toxic Brain Stem Inflammation ³³

Toxic Cerebrospinal Fever ³³

Toxic Brain Inflammation ³³

Encephalopathy Syndrome ³³

Encephalopathy Disease ³³

Toxic Encephalopathy ³³

Toxic Cerebral Fever ³³

Encephalopathy Nec ³³

Encephalopathy Nos ³³

Toxic Brain Fever ³³

Encephalopathies ⁷¹

Brain Diseases ⁷¹

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the nervous system

Other disorders of the nervous system

Other disorders of brain

Encephalopathy, unspecified

ICD11: ³³

Diseases of the nervous system

Nutritional or toxic disorders of the nervous system

Neurological disorders due to nutrient deficiency

Encephalopathy due to nutritional deficiency

Neurological disorders due to toxicity

Encephalopathy due to toxicity

Encephalopathy due to ammonia

Encephalopathy due to toxicity, unspecified

Other specified encephalopathy due to toxicity

Other disorders of the nervous system

Encephalopathy, not elsewhere classified

External Ids:

ICD10 ³¹ G93.4

ICD11 ³³ 1340134114 1375895174 1942289108 more

UMLS ⁷¹ C0006111 C0085584

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Summaries for Encephalopathy

NINDS: ⁵² Encephalopathy is a term for any diffuse disease of the brain that alters brain function or structure. Encephalopathy may be caused by infectious agent (bacteria, virus, or prion), metabolic or mitochondrial dysfunction, brain tumor or increased pressure in the skull, prolonged exposure to toxic elements (including solvents, drugs, radiation, paints, industrial chemicals, and certain metals), chronic progressive trauma, poor nutrition, or lack of oxygen or blood flow to the brain. The hallmark of encephalopathy is an altered mental state. Depending on the type and severity of encephalopathy, common neurological symptoms are progressive loss of memory and cognitive ability, subtle personality changes, inability to concentrate, lethargy, and progressive loss of consciousness. Other neurological symptoms may include myoclonus (involuntary twitching of a muscle or group of muscles), nystagmus (rapid, involuntary eye movement), tremor, muscle atrophy and weakness, dementia, seizures, and loss of ability to swallow or speak. Blood tests, spinal fluid examination, imaging studies, electroencephalograms, and similar diagnostic studies may be used to differentiate the various causes of encephalopathy.

MalaCards based summary: Encephalopathy, also known as toxic cerebrospinal inflammation, is related to developmental and epileptic encephalopathy 1 and glycine encephalopathy, and has symptoms including ataxia, tremor and myoclonus. An important gene associated with Encephalopathy is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are Dravet syndrome and Rett syndrome causing genes. The drugs Lactulose and Rifaximin have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and eye, and related phenotypes are shRNA abundance <= 50% and Reduced mammosphere formation

Wikipedia: ⁷⁵ Encephalopathy (/ɛnˌsɛfəˈlɒpəθi/; from Ancient Greek: ἐνκέφαλος "brain" + πάθος "suffering") means any... more...

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Related Diseases for Encephalopathy

Diseases in the Encephalopathy family:

Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2
Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect	Stxbp1-Related Encephalopathy

Diseases related to Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2728)

#	Related Disease	Score	Top Affiliating Genes
1	developmental and epileptic encephalopathy 1	32.8	STXBP1 SLC25A22 SCN1A CDKL5
2	glycine encephalopathy	32.8	STXBP1 SLC25A22 PNPO CDKL5
3	developmental and epileptic encephalopathy 9	32.7	STXBP1 SCN1A CDKL5
4	developmental and epileptic encephalopathy 14	32.7	SLC25A22 SCN1A CDKL5
5	developmental and epileptic encephalopathy 2	32.6	STXBP1 SLC25A22 SCN1A CDKL5
6	developmental and epileptic encephalopathy 21	32.6	STXBP1 SCN1A CDKL5
7	developmental and epileptic encephalopathy 87	32.5	STXBP1 CDKL5
8	early infantile epileptic encephalopathy	32.5	STXBP1 SLC25A22 SCN1A PNPO CDKL5
9	dravet syndrome	32.5	STXBP1 SLC25A22 SCN1A PNPO CDKL5
10	lennox-gastaut syndrome	32.3	STXBP1 SLC25A22 SCN1A PNPO CDKL5
11	alcohol-related neurodevelopmental disorder	32.2	STXBP1 CDKL5
12	sulfite oxidase deficiency, isolated	32.2	PNPO ETHE1
13	developmental and epileptic encephalopathy	32.1	STXBP1 SLC25A22 SCN1A PNPO CDKL5
14	early myoclonic encephalopathy	32.1	STXBP1 SLC25A22 SCN1A PNPO CSTB CDKL5
15	west syndrome	32.0	STXBP1 SLC25A22 SCN1A PNPO FH CDKL5
16	ohtahara syndrome	31.9	STXBP1 SLC25A22 SCN1A CDKL5
17	landau-kleffner syndrome	31.6	STXBP1 SCN1A CDKL5
18	aicardi syndrome	31.6	STXBP1 SLC25A22 CDKL5
19	epilepsy, pyridoxine-dependent	31.5	STXBP1 SCN1A PNPO CDKL5
20	epilepsy	31.1	STXBP1 SLC25A22 SERPINI1 SCN1A PRNP CSTB
21	childhood absence epilepsy	30.5	STXBP1 SCN1A PNPO CDKL5
22	benign familial neonatal epilepsy	30.5	STXBP1 SLC25A22 SCN1A PNPO CDKL5
23	benign neonatal seizures	30.4	STXBP1 SLC25A22 SCN1A PNPO CDKL5
24	generalized epilepsy with febrile seizures plus	30.3	STXBP1 SCN1A CDKL5
25	gait apraxia	30.0	PRNP CDKL5
26	photosensitive epilepsy	30.0	STXBP1 SCN1A CDKL5
27	benign familial infantile epilepsy	30.0	STXBP1 SCN1A CDKL5
28	progressive myoclonus epilepsy	30.0	STXBP1 SERPINI1 SCN1A CSTB
29	epilepsy, idiopathic generalized	29.9	STXBP1 SCN1A CDKL5
30	benign epilepsy with centrotemporal spikes	29.9	STXBP1 SCN1A PNPO CSTB CDKL5
31	epilepsy with generalized tonic-clonic seizures	29.9	STXBP1 SCN1A CSTB CDKL5
32	partial motor epilepsy	29.6	STXBP1 SCN1A
33	acyl-coa dehydrogenase, short-chain, deficiency of	29.6	ETHE1 ACADM
34	hypotonia, infantile, with psychomotor retardation and characteristic facies 2	29.4	UNC80 LOC121725110
35	autosomal dominant nocturnal frontal lobe epilepsy	29.3	STXBP1 SCN1A PNPO CSTB CDKL5
36	epilepsy, myoclonic juvenile	28.5	UNC80 STXBP1 SCN1A PPP2R5D PNPO CSTB
37	developmental and epileptic encephalopathy 4	11.7
38	hepatic encephalopathy	11.7
39	encephalopathy, neonatal severe, due to mecp2 mutations	11.6
40	acute necrotizing encephalitis	11.6
41	encephalopathy, ethylmalonic	11.6
42	wernicke encephalopathy	11.6
43	creutzfeldt-jakob disease	11.5
44	developmental and epileptic encephalopathy 13	11.5
45	developmental and epileptic encephalopathy 7	11.5
46	encephalopathy, familial, with neuroserpin inclusion bodies	11.5
47	prion disease	11.5
48	neonatal hypoxic and ischemic brain injury	11.5
49	hypertensive encephalopathy	11.5
50	hashimoto encephalopathy	11.5

Comorbidity relations with Encephalopathy via Phenotypic Disease Network (PDN): (show all 29)

Graphical network of the top 20 diseases related to Encephalopathy:

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Symptoms & Phenotypes for Encephalopathy

UMLS symptoms related to Encephalopathy:

ataxia; tremor; myoclonus; back pain; vertigo; dystonia; headache; syncope; athetosis; hemiplegia; cogwheel rigidity; torticollis; pain; agitation; opisthotonus; pseudobulbar signs; chronic pain; sciatica; seizures; vertigo/dizziness; sleeplessness; nervousness; cerebellar ataxia; dizziness; hyperexplexia; akathisia; catatonic reaction

GenomeRNAi Phenotypes related to Encephalopathy according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.17	ACADM ALG1 ATP6V1A CSTB ENO1 ETHE1
2	no effect	GR00402-S-2	10.17	ALG1 CDKL5 CSTB ENO1 ETHE1 FH
3	shRNA abundance <= 50%	GR00343-S	9.81	ALG1 ATP6V1A CDKL5 ENO1 PPP2R5D RANBP2
4	Reduced mammosphere formation	GR00396-S	9.5	FH PPP2R5D RANBP2 SERPINI1 STXBP1 TAB2

MGI Mouse Phenotypes related to Encephalopathy:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.73	ACADM ATP6V1A CDKL5 CSTB ETHE1 PPP2R5D
2	mortality/aging	MP:0010768	9.47	ACADM ALG1 ATP6V1A ENO1 ETHE1 FH

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Drugs & Therapeutics for Encephalopathy

Drugs for Encephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 380)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Lactulose

Approved

Phase 4

4618-18-2

11333

Rifaximin

Approved, Investigational

Phase 4

80621-81-4

46783403 6436173

Midodrine

Approved

Phase 4

133163-28-7, 42794-76-3

4195

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 4

86347-14-0, 113775-47-6

68602 5311068

Midazolam

Approved, Illicit

Phase 4

59467-70-8

4192

Buprenorphine

Approved, Illicit, Investigational, Vet_approved

Phase 4

52485-79-7, 53152-21-9

644073 40400

Naloxone

Approved, Vet_approved

Phase 4

465-65-6

5284596

Carvedilol

Approved, Investigational

Phase 4

72956-09-3

2585

Insulin aspart

Approved

Phase 4

116094-23-6

16132418

Memantine

Approved, Investigational

Phase 4

41100-52-1, 19982-08-2

4054

Formaldehyde

Approved, Vet_approved

Phase 4

50-00-0

712

Valine

Approved, Nutraceutical

Phase 4

72-18-4

1182 6287

Cysteine

Approved, Nutraceutical

Phase 4

52-90-4

594 5862

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 4

22737-96-8, 68-26-8

5280382 445354

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 4

59-30-3

6037

Thiamine

Approved, Investigational, Nutraceutical, Vet_approved

Phase 4

70-16-6

1130

Ascorbic acid

Approved, Nutraceutical

Phase 4

50-81-7

54676860 54670067 5785

Aspartic acid

Approved, Nutraceutical

Phase 4

56-84-8

5960

Ornithine

Approved, Nutraceutical

Phase 4

3184-13-2, 70-26-8

6262

Cathartics

Phase 4

Laxatives

Phase 4

Polyethylene glycol 3350

Phase 4

Anticoagulants

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Hypnotics and Sedatives

Phase 4

GABA Modulators

Phase 4

Anesthetics

Phase 4

Adrenergic alpha-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Sympathomimetics

Phase 4

Omega 3 Fatty Acid

Phase 4

Anti-Anxiety Agents

Phase 4

Psychotropic Drugs

Phase 4

Anesthetics, Intravenous

Phase 4

Anesthetics, General

Phase 4

Analgesics, Non-Narcotic

Phase 4

Buprenorphine, Naloxone Drug Combination

Phase 4

Retinol palmitate

Phase 4

Whey Protein

Phase 4

Folate

Phase 4

Vitamin B9

Phase 4

Trace Elements

Phase 4

Vitamin B1

Phase 4

Vitamin B Complex

Phase 4

Thiamin

Phase 4

Micronutrients

Phase 4

Adrenergic alpha-Antagonists

Phase 4

Adrenergic alpha-1 Receptor Antagonists

Phase 4

Soy Bean

Phase 4

Antiparkinson Agents

Phase 4

Interventional clinical trials:

(show top 50) (show all 659)

#	Name	Status	NCT ID	Phase	Drugs
1	Randomized Trial Comparing The Efficacy of PEG (Polyethylene Glycol) Versus Lactulose For Treatment Of Overt Hepatic Encephalopathy	Unknown status	NCT03100513	Phase 4	Lactulose;Polyethylene Glycol
2	Albumin Infusion Effects in Mortality in Patients With Cirrhosis and Hepatic Encephalopathy	Unknown status	NCT02401490	Phase 4	Human albumin;Placebo
3	Therapeutic Efficacy of Oral L-Ornithine-L-Aspartate on Liver Cirrhosis and Minimal Encephalopathy: a Single Center Placebo Control Double Blind Study	Unknown status	NCT00896831	Phase 4	L-ornithine-L-aspartate;placebo
4	Metformin Experience on Minimal Hepatic Encephalopathy in Patients With Liver Cirrhosis	Unknown status	NCT02470546	Phase 4	Metformin;Placebo
5	Therapeutic Efficacy of Oral PEG3350 Plus Lactulose Versus Lactulose Alone in Patients of Acute on Chronic Liver Failure With Overt Hepatic Encephalopathy: A Single Blind Prospective Randomized Controlled Study	Unknown status	NCT03987893	Phase 4	PEG-3350 with Electolytes;Lactulose
6	Randomized Controlled Trial Comparing Effects of Sedation for Upper Gastrointestinal Endoscopy With Propofol Versus Midazolam on Psychometric Tests and Critical Flicker Frequency in Cirrhotics	Unknown status	NCT01356121	Phase 4	Propofol;Midazolam
7	Secondary Prophylaxis of Hepatic Encephalopathy in Cirrhosis: An Open Label, Randomized Controlled Trial of Lactulose, Probiotics and No-therapy	Unknown status	NCT01178372	Phase 4	Lactulose;Probiotics(VSL#3)
8	Primary Prophylaxis of Hepatic Encephalopathy in Patients With Cirrhosis: an Open Labeled Randomized Controlled Trial of Lactulose Versus no Lactulose	Unknown status	NCT01175538	Phase 4	Lactulose
9	Detection of Silent Atrial Fibrillation aFter Ischemic StrOke (SAFFO) Guided by Implantable Loop Recorder. Multicentre Italian Trial Based on Stroke Unit Network With Paired Cardio-Arrhythmology Units (Italian Neurocardiology Unit Network)	Unknown status	NCT02684825	Phase 4
10	LOLA in Hepatic Encephalopathy Brain Muscle Axis During Treatment of Hepatic Encephalopathy With L-ornithine L-aspartate A Phase iv Randomised Double Blind Placebo- Controlled Trial	Completed	NCT01847651	Phase 4	LOLA or placebo
11	Effect of Lactulose on Minimal Hepatic Encephalopathy and Health-Related Quality of Life	Completed	NCT00375375	Phase 4	Lactulose
12	Midodrine and Albumin for Cirrhotic Patients in the Waiting List for Liver Transplantation	Completed	NCT00839358	Phase 4	albumin;Midodrine;Placebo
13	Septic Encephalopathy and Late Cognitive Dysfunction in Patients With Sepsis - the Role of Inflammation	Completed	NCT00772096	Phase 4	n-3 fatty acids
14	Efficacy of Combined Oral L-ornithine-L-aspartate and Oral Lactulose in Patients With Hepatic Encephalopathy	Completed	NCT00740142	Phase 4	L-ornithine-L-aspartate and lactulose;placebo and lactulose
15	Pharmacokinetics of Buprenorphine and Naloxone in Subjects With Mild to Severe Hepatic Impairment (Child-Pugh Classes, A, B, and C), in HCV-Seropositive Subjects, and in Healthy Volunteers	Completed	NCT01846455	Phase 4	2.0mg Buprenorphine/0.5mg Naloxone;Promethazine
16	A Multicenter, Randomized, Open-Label, Active-Controlled, Trial to Evaluate the Safety and Efficacy of Rifaximin 550 mg With and Without Lactulose in Subjects With a History of Recurrent Overt Hepatic Encephalopathy	Completed	NCT01842581	Phase 4	Rifaximin;Lactulose
17	Rifaximin and Its Microbial Resistance as a Secondary Prophylaxis of Hepatic Encephalopathy in Patients With HCV Related Cirrhosis	Completed	NCT04736836	Phase 4	Rifaximin
18	Optimum Thiamine Intervention (OpT In) for Treatment and Prevention of Wernicke-Korsakoff Syndrome (WKS): A Randomised Controlled Trial	Completed	NCT02788552	Phase 4	Thiamine Hydrochloride
19	A Placebo Controlled Single Centre Double Blind Randomised Trial to Investigate the Efficacy of Rifaximin Versus Placebo in Improving Systemic Inflammation and Neutrophil Malfunction in Patients With Cirrhosis and Chronic Hepatic Encephalopathy	Completed	NCT02019784	Phase 4	Rifaximin-α;Placebo Oral Tablet
20	Low-dose Rifaximin in the Treatment of Covert Hepatic Encephalopathy: A Randomized Open Controlled Study	Completed	NCT03077217	Phase 4	Rifaximin
21	Multicenter, Randomized, Double-blind, Placebo-controlled Study on the Effectiveness of Treatment With Beta-blockers to Prevent Decompensation of Cirrhosis With Portal Hypertension	Completed	NCT01059396	Phase 4	propranolol;carvedilol;placebo
22	The Infusion of L-Ornithine L-aspart is as Effective as Nonabsorbable Disaccharides in the Management of Acute Hepatic Encephalopathy.	Completed	NCT01041755	Phase 4	L-ornithine-L-aspartate;Lactose
23	Effect of the Proteins of the Diet in Patients With Cirrhosis and a Prior Episode of Hepatic Encephalopathy. A Randomized Study	Completed	NCT00955500	Phase 4
24	Effects of the Administration of Albumin in Patients With Cirrhosis and Acute Hepatic Encephalopathy.	Completed	NCT00886925	Phase 4	Albumin;Sodium chloride 0.9%
25	Efficacy of Intravenous 'L-ornithine L-aspartate' in Reversal of Overt Acute Hepatic Encephalopathy in Patients With Liver Cirrhosis: a Prospective, Randomized, Double-blind, Placebo Controlled Trial	Completed	NCT01722578	Phase 4	L-ornithine L-aspartate;Placebo
26	Effect of Albumine Infusion in the Prevention of Hepatic Encephalopathy After Transjugular Intrahepatic Portosystemic Shunt	Completed	NCT01559519	Phase 4	Albumin
27	Comparison of Three Different Schemes:Lactulose, L-ornithine L-aspartate, or Rifaximin, Versus Placebo, as Primary Prophylaxis of the Development of Hepatic Encephalopathy After Acute Variceal Bleeding in Cirrhotic Patients	Completed	NCT02158182	Phase 4	Lactulose;L-ornithine L-aspartate;Rifaximin;Placebo
28	The First-day High Dose Vitamin E and Vitamin C in Hypoxic Ischemic Encephalopathy (Following Birth Asphyxia) in Newborns	Completed	NCT01743742	Phase 4	Vitamin E, Vitamin C
29	Randomized Double-blind Placebo-controlled Trial of Memantine Hydrochloride for the Treatment of Childhood-onset Epileptic Encephalopathies	Completed	NCT03779672	Phase 4	Memantine Hydrochloride 10 mg
30	A Randomized, Controlled, Multicentric Trial Comparing Endoscopic Band Ligation Versus Ransjugular Intrahepatic Portosystemic Stent Shunt in Cirrhotic Patients With Recurrent Variceal Bleeding Non Responding to Medical Therapy	Completed	NCT00570973	Phase 4
31	Comparative Study of Dexmedetomidine-midazolam Combination and Propofol-midazolam Combination for MRI Brain in Paediatric Patient	Completed	NCT02776189	Phase 4	Dexmedetomidine;propofol;Midazolam
32	Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson's Disease: Changes in Biomarkers of Oxidative Stress, Profiles of Plasma Amino Acids and Their Derivatives and Brain Function	Completed	NCT01662414	Phase 4
33	Phase IV, Double Blind, Multi-Center, Randomized, Two-Arm Crossover Study to Compare 0.1 mmol/kg of MultiHance With 0.1 mmol/kg of Dotarem and 0.05 mmol/kg of MultiHance With 0.1 mmol/kg of Dotarem in MRI of the Brain	Completed	NCT02070380	Phase 4	MultiHance 0.1 mmol/kg;Dotarem;MultiHance 0.05 mmol/kg
34	Phase IV, Double-blind, Multi-center, Randomized, Crossover Study to Compare 0.1 mmol/kg of Prohance® With 0.1 mmol/kg of Gadovist®/Gadavist™ in Magnetic Resonance Imaging (MRI) of the Brain (TRUTH)	Completed	NCT01613417	Phase 4	gadoteridol;gadobutrol
35	Fenfluramine for the Treatment of Different Types of Developmental and Epileptic Encephalopathies: a Pilot Trial Exploring Epileptic and Non-epileptic Outcomes	Recruiting	NCT05232630	Phase 4	Fenfluramine
36	Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies	Recruiting	NCT02951559	Phase 4
37	Efficacy of L-Ornithine L-Aspartate (LOLA) as an Adjunct to Branched Chain Amino Acids (BCAA) Enriched Solutions on Clinical Outcomes in ICU Patients With Hepatic Encephalopathy: a Randomized Controlled Trial	Recruiting	NCT05539027	Phase 4	Branched-chain amino acids (BCAA), enriched solution (Aminoleban) and L-ornithine L-aspartate (LOLA);Branched-chain amino acids (BCAA), enriched solution (Aminoleban)
38	Prevention of Hepatic Encephalopathy by Administration of Rifaximin and Lactulose in Patients With Liver Cirrhosis Undergoing TIPS Placement: a Multi-centre Randomized, Double Blind, Placebo Controlled Trial.	Recruiting	NCT04073290	Phase 4	Rifaximin 550 milligram Oral Tablet [XIFAXAN];Placebo oral tablet;Lactulose 667 milligram/milliliter Oral Solution
39	A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial To Evaluate The Efficacy, Safety, And Pharmacokinetics Of Rifaximin 550 Mg In Subjects With Severe Hepatic Impairment And Overt Hepatic Encephalopathy	Recruiting	NCT01846663	Phase 4	Placebo;Rifaximin
40	Effect of Polyethylene Glycol Versus Lactulose on Hepatic Encephalopathy in Patients With Liver Cirrhosis; a Randomized Clinical Trial (PEGHE Trial)	Recruiting	NCT04436601	Phase 4	Polyethylene Glycols;Lactulose
41	Role and Mechanism of Bifidobacterium Triple Viable Capsules in Improving Motor Symptoms in Patients With Mild to Moderate Parkinson's Disease: a Multicenter Randomized Clinical Study	Recruiting	NCT04871464	Phase 4	Live Combined Bifidobacterium,Lactobacillus and Enterococcus Capsules
42	Quality of Life and Nutritional Improvements in Cirrhotic Patients Following Hepatic Encephalopathy Using Rifaximin.	Terminated	NCT01842113	Phase 4	Rifaximin;Lactulose;Lactulose Placebo;Rifaximin Placebo
43	Randomized Double Blind Placebo Controlled Trial of Lactulose for the Prevention of Hepatic Encephalopathy in Cirrhotic Patients With Upper Gastrointestinal Hemorrhage	Unknown status	NCT00553423	Phase 3	Lactulose;Placebo
44	A Multicenter Randomized Controlled Trial of Therapeutic Hypothermia Plus Magnesium Sulphate (MgSO4) Versus Therapeutic Hypothermia Plus Placebo in the Management of Term and Near Term Babies With Hypoxic Ischemic Encephalopathy	Unknown status	NCT01646619	Phase 3	Magnesium Sulphate;Placebo
45	A Randomized, Double-blind, Controlled Trial Comparing Nitazoxanide Plus Lactulose With Lactulose Alone Treatment of Overt Hepatic Encephalopathy	Unknown status	NCT02464124	Phase 2, Phase 3	Nitazoxanide;Lactulose
46	Minimal Hepatic Encephalopathy in Pre-hepatic Portal Hypertension Due to Portal Vein Thrombosis in Childhood and Young Adult: epidemiOlogical Study and Pilot Interventional Study.	Unknown status	NCT01798329	Phase 3
47	Effect of Erythropoietin and Hypothermia on Management of Neonatal Hypoxic Ischemic Encephalopathy	Unknown status	NCT03163589	Phase 3	Erythropoietin;normal saline
48	Role of Citicoline in Treatment of Newborns With Hypoxic Ischemic Encephalopathy	Unknown status	NCT03181646	Phase 3	citicoline
49	Transcranial Direct Current Stimulation (tDCS) as a Potential Adjunct Intervention in Stroke Rehabilitation	Unknown status	NCT01414582	Phase 2, Phase 3
50	A Multi-Center, Open-Label Trial to Evaluate the Long-Term Safety and Tolerability of Rifaximin 550 mg BID in Subjects With a History of Hepatic Encephalopathy	Completed	NCT00686920	Phase 3	Rifaximin

Search NIH Clinical Center for Encephalopathy

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Genetic Tests for Encephalopathy

Genetic tests related to Encephalopathy:

#	Genetic test	Affiliating Genes
1	Encephalopathy ²⁸

Sources

Anatomical Context for Encephalopathy

Organs/tissues related to Encephalopathy:

MalaCards : Brain, Liver, Eye, Bone Marrow, Temporal Lobe, Spinal Cord, Prefrontal Cortex

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Publications for Encephalopathy

Articles related to Encephalopathy:

(show top 50) (show all 31095)

#	Title	Authors	PMID	Year
1	Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. ⁵³ ⁶²	Willemsen MA...Wevers RA	20430833	2010
2	Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. ⁵³ ⁶²	Tzoulis C...Bindoff LA	20400524	2010
3	Antituberculosis therapy-induced acute liver failure: magnitude, profile, prognosis, and predictors of outcome. ⁵³ ⁶²	Kumar R...Acharya SK	20196116	2010
4	Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. ⁵³ ⁶²	White R...Christodoulou J	20397747	2010
5	Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. ⁵³ ⁶²	Mei D...Guerrini R	19780792	2010
6	Biotin responsive seizures and encephalopathy due to biotinidase deficiency. ⁵³ ⁶²	Joshi SN...Bayoumi R	20508364	2010
7	[Epileptic encephalopathy due to partial biotinidase deficiency]. ⁵³ ⁶²	Lafuente-Hidalgo M...Baldellou Vazquez A	20171151	2010
8	Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. ⁵³ ⁶²	Ben-Ari Z...Mandel H	20031247	2010
9	Predictive factors for rebleeding and death in alcoholic cirrhotic patients with acute variceal bleeding: a multivariate analysis. ⁵³ ⁶²	Krige JE...Bornman PC	19672651	2009
10	Natural course of fulminant hepatic failure: the scenario in Bangladesh and the differences from the west. ⁵³ ⁶²	Alam S...Khan M	19794267	2009
11	Neuromyelitis optica - an update: 2007-2009. ⁵³ ⁶²	Jacob A	20182570	2009
12	De novo mutations in POLG presenting with acute liver failure or encephalopathy. ⁵³ ⁶²	Lutz RE...Wong LJ	19252446	2009
13	Performance of the hepatic encephalopathy scoring algorithm in a clinical trial of patients with cirrhosis and severe hepatic encephalopathy. ⁵³ ⁶²	Hassanein T...Fontana R	19455117	2009
14	[Acute hyperammonemic encephalopathy in ornithine transcarbamylase deficiency]. ⁵³ ⁶²	Sanchez Sanchez V...Rodriguez Uranga JJ	20050118	2009
15	Survival predictors in patients treated with a molecular adsorbent recirculating system. ⁵³ ⁶²	Kantola T...Isoniemi H	19554655	2009
16	Loss of function of Sco1 and its interaction with cytochrome c oxidase. ⁵³ ⁶²	Stiburek L...Zeman J	19295170	2009
17	Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. ⁵³ ⁶²	Lugtenberg D...de Brouwer AP	18985075	2009
18	Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. ⁵³ ⁶²	Tiranti V...Zeviani M	19136963	2009
19	Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. ⁵³ ⁶²	Depienne C...Leguern E	19214208	2009
20	A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. ⁵³ ⁶²	Sartori S...Murgia A	19161156	2009
21	[Changes in plasma S-100 beta and neuron-specific enolase in peri-operative period of orthotopic liver transplantation and its relationship with encephalopathy after operation]. ⁵³ ⁶²	Sun HY...Li SR	19220958	2009
22	Albumin dialysis improves hepatic encephalopathy and decreases circulating phenolic aromatic amino acids in patients with alcoholic hepatitis and severe liver failure. ⁵³ ⁶²	Pares A...Mas A	19175915	2009
23	Liver function test results and outcomes in children with acute liver failure due to dengue infection. ⁵³ ⁶²	Chongsrisawat V...Poovorawan Y	19323033	2009
24	Key clinical features to identify girls with CDKL5 mutations. ⁵³ ⁶²	Bahi-Buisson N...Bienvenu T	18790821	2008
25	Myelin basic protein in cerebrospinal fluid: a predictive marker of delayed encephalopathy from carbon monoxide poisoning. ⁵³ ⁶²	Ide T...Kamijo Y	18926351	2008
26	Steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT) with negative thyroperoxidase antibodies. ⁵³ ⁶²	Giovanella L...Marone C	18837747	2008
27	Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. ⁵³ ⁶²	Schule B...Francke U	18477000	2008
28	Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. ⁵³ ⁶²	Jurecka A...Pronicka E	18524658	2008
29	The three stages of epilepsy in patients with CDKL5 mutations. ⁵³ ⁶²	Bahi-Buisson N...Bienvenu T	18266744	2008
30	Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. ⁵³ ⁶²	Yao D...Kido H	18306170	2008
31	Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency. ⁵³ ⁶²	Chan JS...Blanke CD	18414167	2008
32	Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. ⁵³ ⁶²	Rosas-Vargas H...Bienvenu T	17993579	2008
33	Prognostic factors in paediatric acute liver failure. ⁵³ ⁶²	Ciocca M...Alvarez F	17872939	2008
34	Encephalopathy after high-dose Ifosfamide: a retrospective cohort study and review of the literature. ⁵³ ⁶²	Sweiss KI...Shord SS	18840018	2008
35	Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. ⁵³ ⁶²	Wong VC...Li SY	18174559	2007
36	Anti-thyroperoxidase antibodies from patients with Hashimoto's encephalopathy bind to cerebellar astrocytes. ⁵³ ⁶²	Blanchin S...Ballet JJ	17963848	2007
37	A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. ⁵³ ⁶²	Ribases M...Cormand B	17698383	2007
38	Validation of ICD-9-CM/ICD-10 coding algorithms for the identification of patients with acetaminophen overdose and hepatotoxicity using administrative data. ⁵³ ⁶²	Myers RP...Li B	17910762	2007
39	GLUT1 deficiency syndrome--2007 update. ⁵³ ⁶²	Klepper J...Leiendecker B	17718830	2007
40	A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). ⁵³ ⁶²	Kato M...Hayasaka K	17668384	2007
41	Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome. ⁵³ ⁶²	Chan DW...Phuah HK	17560506	2007
42	Early indicators of prognosis in fulminant hepatic failure: an assessment of the Model for End-Stage Liver Disease (MELD) and King's College Hospital criteria. ⁵³ ⁶²	Dhiman RK...Chawla Y	17370333	2007
43	Fulminant liver failure from acute autochthonous hepatitis E in France: description of seven patients with acute hepatitis E and encephalopathy. ⁵³ ⁶²	Peron JM...Vinel JP	17439518	2007
44	Recurrent myelin basic protein elevation in cerebrospinal fluid as a predictive marker of delayed encephalopathy after carbon monoxide poisoning. ⁵³ ⁶²	Kamijo Y...Ide T	17499675	2007
45	Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. ⁵³ ⁶²	Fernandez-Vizarra E...Zeviani M	17403714	2007
46	Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies. ⁵³ ⁶²	Galliciotti G...Sonderegger P	17392169	2007
47	High prevalence of serum autoantibodies against the amino terminal of alpha-enolase in Hashimoto's encephalopathy. ⁵³ ⁶²	Yoneda M...Kuriyama M	17335908	2007
48	Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. ⁵³ ⁶²	Van Esch H...Fryns JP	17256798	2007
49	Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. ⁵³ ⁶²	Hoffmann GF...Zschocke J	17216302	2007
50	Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery. ⁵³ ⁶²	Hu WT...Tippmann-Peikert M	17210820	2007

Sources

Genes for Encephalopathy

Genes related to Encephalopathy (4 elite genes):

(show all 43)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	414.73	Pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)
2	ALG1	ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase	Protein Coding	400	Pathogenic ⁵
3	CSTB	Cystatin B	Protein Coding	400	Pathogenic ⁵
4	TAB2	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2	Protein Coding	400	Pathogenic ⁵
5	ETHE1	ETHE1 Persulfide Dioxygenase	Protein Coding	44.17	GeneCards inferred via : Disorders Publications Gene name Summaries Pathways & Interactions (show sections)
6	UNC80	Unc-80 Homolog, NALCN Channel Complex Subunit	Protein Coding	40.61	Likely pathogenic ⁵ GeneCards inferred via : Publications Summaries (show sections)
7	ATP6V1A	ATPase H+ Transporting V1 Subunit A	Protein Coding	39.92	Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)
8	SERPINI1	Serpin Family I Member 1	Protein Coding	34.66	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	17392169 11559315 11880376 (more) 16782060 10595921 15664988 14694355 15291813 10517635 18234218 19285087 19423713 15090543 12023831 18940798 14983220 19265707 17606885 16704419 19843463 19953505 11914409 15152461 16011217 15353322 16465451
9	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	34.12	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	17347258 16713920 18357670 (more) 19589774 19214208 19782004
10	SLC25A22	Solute Carrier Family 25 Member 22	Protein Coding	33.19	GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
11	PNPO	Pyridoxamine 5'-Phosphate Oxidase	Protein Coding	30.65	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	17216302 16538088 15772097
12	PRNP	Prion Protein	Protein Coding	30.49	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	17601775 18507665 19725833 (more) 7964868 10953183 8105481 9003061 1375461 10441469 7767489 10581485 15235804 10842016 10432318 8973567 11524679 8974629 8000566 7907586
13	ENO1	Enolase 1	Protein Coding	30.09	Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries Proteins (show sections)	17335908 15833368 17154034 (more) 16405264 12297304
14	FH	Fumarate Hydratase	Protein Coding	30.02	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	8200987 16760265 18313410 (more) 16510303 2314594
15	ACADM	Acyl-CoA Dehydrogenase Medium Chain	Protein Coding	28.97	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	15567346 1288265
16	STXBP1	Syntaxin Binding Protein 1	Protein Coding	25.22	GeneCards inferred via : Disorders Publications Summaries (show sections)
17	RANBP2	RAN Binding Protein 2	Protein Coding	25.14	GeneCards inferred via : Disorders Publications Gene name (show sections)
18	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	25.06	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	17256798 17993579 19780792 (more) 19740913 20397747 19161156 18790821 16326141 19793311 18266744 19428276
19	LOC121725110	Sharpr-MPRA Regulatory Region 8902	Functional Element	25	Likely pathogenic ⁵
20	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B'Delta	Protein Coding	25	Likely pathogenic ⁵
21	SPEN	Spen Family Transcriptional Repressor	Protein Coding	25	Likely pathogenic ⁵
22	SLC19A3	Solute Carrier Family 19 Member 3	Protein Coding	24.86	GeneCards inferred via : Disorders Publications Summaries (show sections)
23	GNAO1	G Protein Subunit Alpha O1	Protein Coding	24.72	GeneCards inferred via : Disorders Publications Summaries (show sections)
24	PCDH19	Protocadherin 19	Protein Coding	24.63	GeneCards inferred via : Disorders Publications Summaries (show sections)
25	DNM1L	Dynamin 1 Like	Protein Coding	24.36	GeneCards inferred via : Disorders Publications Summaries (show sections)
26	FRRS1L	Ferric Chelate Reductase 1 Like	Protein Coding	24.34	GeneCards inferred via : Disorders Publications Summaries (show sections)
27	ARV1	ARV1 Homolog, Fatty Acid Homeostasis Modulator	Protein Coding	24.11	GeneCards inferred via : Disorders Publications Summaries (show sections)
28	CYFIP2	Cytoplasmic FMR1 Interacting Protein 2	Protein Coding	24.11	GeneCards inferred via : Disorders Publications Summaries (show sections)
29	KCNT2	Potassium Sodium-Activated Channel Subfamily T Member 2	Protein Coding	24.11	GeneCards inferred via : Disorders Publications Summaries (show sections)
30	PACS2	Phosphofurin Acidic Cluster Sorting Protein 2	Protein Coding	24.11	GeneCards inferred via : Disorders Publications Summaries (show sections)
31	CACNA2D2	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2	Protein Coding	24.09	GeneCards inferred via : Disorders Publications Summaries (show sections)
32	SLC13A5	Solute Carrier Family 13 Member 5	Protein Coding	24.09	GeneCards inferred via : Disorders Publications Summaries (show sections)
33	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	24.01	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	14649549 18477000 11238684 (more) 16832102 18985075 20397747 11106281 11532982 12180070 19442733 18174559 16122633 12750821 17236109 12210319 11913564 11738873 16473305 20420693 15557528 12719401 18842453
34	NDUFV2	NADH:Ubiquinone Oxidoreductase Core Subunit V2	Protein Coding	23.98	GeneCards inferred via : Disorders Publications Summaries (show sections)
35	AP3B2	Adaptor Related Protein Complex 3 Subunit Beta 2	Protein Coding	23.95	GeneCards inferred via : Disorders Publications Summaries (show sections)
36	DENND5A	DENN Domain Containing 5A	Protein Coding	23.95	GeneCards inferred via : Disorders Publications Summaries (show sections)
37	NSF	N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase	Protein Coding	23.95	GeneCards inferred via : Disorders Publications Summaries (show sections)
38	TRAK1	Trafficking Kinesin Protein 1	Protein Coding	23.95	GeneCards inferred via : Disorders Publications Summaries (show sections)
39	NDUFAF2	NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 2	Protein Coding	23.84	GeneCards inferred via : Disorders Publications Summaries (show sections)
40	SPTAN1	Spectrin Alpha, Non-Erythrocytic 1	Protein Coding	23.84	GeneCards inferred via : Disorders Publications Summaries (show sections)
41	TUFM	Tu Translation Elongation Factor, Mitochondrial	Protein Coding	23.84	GeneCards inferred via : Disorders Publications Summaries (show sections)
42	HNRNPU	Heterogeneous Nuclear Ribonucleoprotein U	Protein Coding	23.74	GeneCards inferred via : Disorders Publications Summaries (show sections)
43	NECAP1	NECAP Endocytosis Associated 1	Protein Coding	23.67	GeneCards inferred via : Disorders Publications Summaries (show sections)

Sources

Variations for Encephalopathy

ClinVar genetic disease variations for Encephalopathy:

⁵ (show all 19)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TGFB1	NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)	SNV	Pathogenic	488345	rs1555755242	GRCh37: 19:41858622-41858622 GRCh38: 19:41352717-41352717
2	TGFB1	NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)	SNV	Pathogenic	488346	rs1336387628	GRCh37: 19:41836971-41836971 GRCh38: 19:41331066-41331066
3	TGFB1	NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)	SNV	Pathogenic	487577	rs1555755308	GRCh37: 19:41858817-41858817 GRCh38: 19:41352912-41352912
4	TAB2	NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)	SNV	Pathogenic	561124	rs1479104927	GRCh37: 6:149699730-149699730 GRCh38: 6:149378594-149378594
5	ALG1	NM_019109.5(ALG1):c.1187+3A>G	SNV	Pathogenic	224118	rs369160589	GRCh37: 16:5132677-5132677 GRCh38: 16:5082676-5082676
6	CSTB	NM_000100.4(CSTB):c.67-1G>C	SNV	Pathogenic	8395	rs147484110	GRCh37: 21:45194641-45194641 GRCh38: 21:43774760-43774760
7	ALG1	NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	SNV	Pathogenic	4724	rs28939378	GRCh37: 16:5128790-5128790 GRCh38: 16:5078789-5078789
8	ATP6V1A	NM_001690.4(ATP6V1A):c.790T>C (p.Ser264Pro)	SNV	Likely Pathogenic	1172608		GRCh37: 3:113507633-113507633 GRCh38: 3:113788786-113788786
9	PPP2R5D	NM_006245.4(PPP2R5D):c.592_600del (p.Glu198_Glu200del)	DEL	Likely Pathogenic	1172649		GRCh37: 6:42975000-42975008 GRCh38: 6:43007262-43007270
10	UNC80	NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)	SNV	Likely Pathogenic	219189	rs200659479	GRCh37: 2:210678443-210678443 GRCh38: 2:209813719-209813719
11	UNC80	NM_001371986.1(UNC80):c.565G>A (p.Val189Met)	SNV	Likely Pathogenic	219190	rs864321623	GRCh37: 2:210642248-210642248 GRCh38: 2:209777524-209777524
12	LOC121725110, UNC80	NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter)	SNV	Likely Pathogenic	219188	rs864321622	GRCh37: 2:210737641-210737641 GRCh38: 2:209872917-209872917
13	SPEN	NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs)	DEL	Likely Pathogenic	992611		GRCh37: 1:16258822-16258823 GRCh38: 1:15932327-15932328
14	GRIN2D	NM_000836.4(GRIN2D):c.3961G>C (p.Gly1321Arg)	SNV	Uncertain Significance	983379	rs1365441040	GRCh37: 19:48947144-48947144 GRCh38: 19:48443887-48443887
15	overlap with 4 genes		DEL	Uncertain Significance	635911		GRCh37: 2:215485042-216474011 GRCh38:
16	MT-ND4	NC_012920.1:m.11815C>G	SNV	Uncertain Significance	370053	rs879025367	GRCh37: MT:11815-11815 GRCh38: MT:11815-11815
17	MT-ND4	NC_012920.1:m.12013A>G	SNV	Uncertain Significance	370056	rs1057516067	GRCh37: MT:12013-12013 GRCh38: MT:12013-12013
18	MT-ND4	NC_012920.1:m.12018C>G	SNV	Uncertain Significance	370057	rs1057516068	GRCh37: MT:12018-12018 GRCh38: MT:12018-12018
19	ADARB1	NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser)	SNV	Benign	977316	rs1344272743	GRCh37: 21:46641999-46641999 GRCh38: 21:45222084-45222084

Copy number variations for Encephalopathy from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	43413	10	46400346	51237832	Duplication		Encephalopathy
2	211019	6	31900000	33600000	Microdeletion	HLA-DPB1	Encephalopathy
3	211020	6	31900000	33600000	Microdeletion	HLA-DPB2	Encephalopathy