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Disease

early-infantile DEE

Also known as EIDEE, EIEE, EME, Ohtahara syndrome+16 more

EIDEE, EIEE, EME, Ohtahara syndrome, early infantile epileptic encephalopathy, early infantile epileptic encephalopathy with burst-suppression, early infantile epileptic encephalopathy with suppression-bursts, early myoclonic encephalopathy, early myoclonic encephalopathy with suppression-bursts, early-infantile developmental and epileptic encephalopathy syndrome, epileptic encephalopathy, early infantile, epileptic encephalopathy, infantile, infantile epileptic encephalopathy, myoclonus epilepsy, epileptic seizures - myoclonic, epileptic seizures, myoclonic, myoclonia epileptica, myoclonic epilepsy, myoclonic seizure, myoclonic seizure disorder.

12
Associated genes
7
Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Atidarsagene autotemcelapproved

Approval — Libmeldy is indicated for the treatment of metachromatic leukodystrophy (MLD) characteriz… (2020)

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2020emaApproval — Atidarsagene autotemcel· Libmeldy is indicated for the treatment of metachromatic leukodystrophy (MLD) characterized by biallelic mutations in the arysulfatase A (ARSA) gene leading to a reduction of the ARSA enzymatic activity: in children with late infantile or early juvenile forms, without clinical manifestations of the disease, in children with the early juvenile form, with early clinical manifestations of the disease, who still  have the ability to walk independently and before the onset of cognitive decline. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Associated genes

12 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

STXBP10.73PNKP0.69SCN8A0.68SLC25A220.68GNAO10.65HCN10.64KCNQ20.58EEF1A20.58CACNA2D20.57SPTAN10.56KCND20.52ST3GAL30.52

Disease biology

7 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Sodium channel protein type 8 subunit alphavia SCN8A0.68Potassium voltage-gated channel subfamily KQT member 2via KCNQ20.58Voltage-dependent calcium channel subunit alpha-2/delta-2via CACNA2D20.57A-type voltage-gated potassium channel KCND2via KCND20.52Voltage-gated delayed rectifier potassium channel KCNH5via KCNH50.51Protein phosphatase 3 catalytic subunit alphavia PPP3CA0.46Ceruloplasminvia CP0.37

Reference

Authoritative identity, definition & identifiers.

Synonyms

EIDEE, EIEE, EME, Ohtahara syndrome, early infantile epileptic encephalopathy, early infantile epileptic encephalopathy with burst-suppression, early infantile epileptic encephalopathy with suppression-bursts, early myoclonic encephalopathy, early myoclonic encephalopathy with suppression-bursts, early-infantile developmental and epileptic encephalopathy syndrome, epileptic encephalopathy, early infantile, epileptic encephalopathy, infantile, infantile epileptic encephalopathy, myoclonus epilepsy, epileptic seizures - myoclonic, epileptic seizures, myoclonic, myoclonia epileptica, myoclonic epilepsy, myoclonic seizure, myoclonic seizure disorder

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.