Developmental and epileptic encephalopathy, 64
diseaseOn this page
Also known as DEE64developmental and epileptic encephalopathy 64EIEE64epileptic encephalopathy, early infantile, 64RHOBTB2 syndromeRHOBTB2-associated neurodevelopmental disordersRHOBTB2-related disorders
Summary
Developmental and epileptic encephalopathy, 64 (MONDO:0033373) is a disease caused by RHOBTB2 (GenCC Strong), with 2 cohort genes.
At a glance
- Causal gene: RHOBTB2 (GenCC Strong)
- Cohort genes: 2
- ClinVar variants: 57
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | developmental and epileptic encephalopathy, 64 |
| Mondo ID | MONDO:0033373 |
| OMIM | 618004 |
| DOID | DOID:0070375 |
| UMLS | C4693899 |
| MedGen | 1633501 |
| GARD | 0013681 |
| Is cancer (heuristic) | no |
Also known as: DEE64 · developmental and epileptic encephalopathy 64 · EIEE64 · epileptic encephalopathy, early infantile, 64 · RHOBTB2 syndrome · RHOBTB2-associated neurodevelopmental disorders · RHOBTB2-related disorders
Data availability: 57 ClinVar variants · 4 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neurological disease › Mendelian neurodevelopmental disorder › genetic developmental and epileptic encephalopathy › developmental and epileptic encephalopathy, 64
Related subtypes (104): developmental and epileptic encephalopathy, 9, developmental and epileptic encephalopathy, 8, developmental and epileptic encephalopathy, 2, multiple congenital anomalies-hypotonia-seizures syndrome 2, developmental and epileptic encephalopathy, 36, developmental and epileptic encephalopathy, 1, developmental and epileptic encephalopathy, 3, developmental and epileptic encephalopathy, 4, microcephaly, seizures, and developmental delay, developmental and epileptic encephalopathy, 5, developmental and epileptic encephalopathy, 7, developmental and epileptic encephalopathy, 11, neonatal-onset encephalopathy with rigidity and seizures, developmental and epileptic encephalopathy, 14, developmental and epileptic encephalopathy, 15, developmental and epileptic encephalopathy, 17, developmental and epileptic encephalopathy, 18, developmental and epileptic encephalopathy, 19, developmental and epileptic encephalopathy, 23, developmental and epileptic encephalopathy, 27, developmental and epileptic encephalopathy, 30, developmental and epileptic encephalopathy, 50, developmental and epileptic encephalopathy, 35, developmental and epileptic encephalopathy, 37, developmental and epileptic encephalopathy, 38, developmental and epileptic encephalopathy, 40, developmental and epileptic encephalopathy, 48, developmental and epileptic encephalopathy, 49, developmental and epileptic encephalopathy, 51, Lennox-Gastaut syndrome, developmental and epileptic encephalopathy 91, developmental and epileptic encephalopathy 92, developmental and epileptic encephalopathy 93, developmental and epileptic encephalopathy 96, developmental and epileptic encephalopathy, 90, developmental and epileptic encephalopathy, 85, with or without midline brain defects, developmental and epileptic encephalopathy, 67, developmental and epileptic encephalopathy, 86, developmental and epileptic encephalopathy, 87, developmental and epileptic encephalopathy, 88, developmental and epileptic encephalopathy 6B, developmental and epileptic encephalopathy 97, developmental and epileptic encephalopathy 98, developmental and epileptic encephalopathy 99, developmental and epileptic encephalopathy 100, developmental and epileptic encephalopathy 101, developmental and epileptic encephalopathy 89, developmental and epileptic encephalopathy 102, developmental and epileptic encephalopathy 103, developmental and epileptic encephalopathy 104, developmental and epileptic encephalopathy 105 with hypopituitarism, developmental and epileptic encephalopathy 106, developmental and epileptic encephalopathy 107, developmental and epileptic encephalopathy, 68, developmental and epileptic encephalopathy, 69, developmental and epileptic encephalopathy, 70, developmental and epileptic encephalopathy, 71, developmental and epileptic encephalopathy, 72, developmental and epileptic encephalopathy, 74, developmental and epileptic encephalopathy, 75, developmental and epileptic encephalopathy, 76, developmental and epileptic encephalopathy, 77, developmental and epileptic encephalopathy, 78, developmental and epileptic encephalopathy, 79, developmental and epileptic encephalopathy, 80, developmental and epileptic encephalopathy, 81, developmental and epileptic encephalopathy, 82, developmental and epileptic encephalopathy, 83, developmental and epileptic encephalopathy, 84, developmental and epileptic encephalopathy, 52, developmental and epileptic encephalopathy, 53, developmental and epileptic encephalopathy, 54, developmental and epileptic encephalopathy, 55, developmental and epileptic encephalopathy, 56, developmental and epileptic encephalopathy, 57, developmental and epileptic encephalopathy, 58, developmental and epileptic encephalopathy, 59, developmental and epileptic encephalopathy, 60, developmental and epileptic encephalopathy, 61, developmental and epileptic encephalopathy, 62, developmental and epileptic encephalopathy, 63, developmental and epileptic encephalopathy, 65, developmental and epileptic encephalopathy, 73, developmental and epileptic encephalopathy, 66, developmental and epileptic encephalopathy, 6A, non-neonatal early infantile epileptic encephalopathy, Dravet syndrome, neonatal-onset developmental and epileptic encephalopathy, hemiplegic migraine-developmental and epileptic encephalopathy spectrum, DNM1-encephalopathy and neurodevelopmental disorder, TMEM63B-related developmental and epileptic encephalopathy with anemia, developmental and epileptic encephalopathy 108, developmental and epileptic encephalopathy 109, developmental and epileptic encephalopathy 110, developmental and epileptic encephalopathy 111, developmental and epileptic encephalopathy 112, developmental and epileptic encephalopathy 113, developmental and epileptic encephalopathy 114, developmental and epileptic encephalopathy 115, developmental and epileptic encephalopathy 116, developmental and epileptic encephalopathy 118, developmental and epileptic encephalopathy 120, developmental and epileptic encephalopathy 121, developmental and epileptic encephalopathy 119
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
57 retrieved; paginated sample, class counts are floors:
30 uncertain significance, 10 conflicting classifications of pathogenicity, 5 likely pathogenic, 5 pathogenic/likely pathogenic, 3 benign, 2 benign/likely benign, 1 pathogenic, 1 not provided
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 495261 | NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) | RHOBTB2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 521853 | NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) | RHOBTB2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 545417 | NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) | RHOBTB2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 545418 | NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) | RHOBTB2 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 617912 | NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) | RHOBTB2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 870711 | NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly) | RHOBTB2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2443571 | NM_015178.3(RHOBTB2):c.280C>T (p.Arg94Cys) | RHOBTB2 | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2584435 | NM_015178.3(RHOBTB2):c.103G>T (p.Ala35Ser) | RHOBTB2 | Likely pathogenic | criteria provided, single submitter |
| 4057336 | NM_015178.3(RHOBTB2):c.656C>T (p.Ser219Phe) | RHOBTB2 | Likely pathogenic | criteria provided, single submitter |
| 545421 | NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) | RHOBTB2 | Likely pathogenic | criteria provided, single submitter |
| 800793 | NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter) | RHOBTB2 | Likely pathogenic | criteria provided, single submitter |
| 1341816 | NM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met) | RHOBTB2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1491653 | NM_015178.3(RHOBTB2):c.332A>G (p.Asn111Ser) | RHOBTB2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1515448 | NM_015178.3(RHOBTB2):c.1382G>C (p.Arg461Pro) | RHOBTB2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1560552 | NM_015178.3(RHOBTB2):c.1948A>G (p.Met650Val) | RHOBTB2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1574728 | NM_015178.3(RHOBTB2):c.1681G>A (p.Gly561Ser) | RHOBTB2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1918911 | NM_015178.3(RHOBTB2):c.482+5G>A | RHOBTB2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1983501 | NM_015178.3(RHOBTB2):c.1660G>A (p.Val554Met) | RHOBTB2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2121105 | NM_015178.3(RHOBTB2):c.713C>T (p.Pro238Leu) | RHOBTB2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 932476 | NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly) | RHOBTB2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 992813 | NM_015178.3(RHOBTB2):c.1150C>T (p.Arg384Cys) | RHOBTB2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1027644 | NM_015178.3(RHOBTB2):c.208C>T (p.Arg70Ter) | RHOBTB2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1027750 | NM_015178.3(RHOBTB2):c.56T>C (p.Val19Ala) | RHOBTB2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1027751 | NM_015178.3(RHOBTB2):c.2102G>C (p.Trp701Ser) | RHOBTB2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1098681 | NM_015178.3(RHOBTB2):c.2038C>T (p.Arg680Trp) | RHOBTB2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1341709 | NM_015178.3(RHOBTB2):c.1541A>G (p.His514Arg) | RHOBTB2 | Uncertain significance | criteria provided, single submitter |
| 1342421 | NM_015178.3(RHOBTB2):c.1488del (p.Gly497fs) | RHOBTB2 | Uncertain significance | criteria provided, single submitter |
| 1439048 | NM_015178.3(RHOBTB2):c.1834G>A (p.Val612Ile) | RHOBTB2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1512261 | NM_015178.3(RHOBTB2):c.935G>T (p.Gly312Val) | RHOBTB2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1699026 | NM_015178.3(RHOBTB2):c.1216A>G (p.Thr406Ala) | RHOBTB2 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| RHOBTB2 | Strong | Autosomal dominant | developmental and epileptic encephalopathy, 64 | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| RHOBTB2 | Orphanet:1934 | Early infantile developmental and epileptic encephalopathy |
| RHOBTB2 | Orphanet:2131 | Alternating hemiplegia of childhood |
| SCN8A | Orphanet:178469 | Autosomal dominant non-syndromic intellectual disability |
| SCN8A | Orphanet:306 | Self-limited infantile epilepsy |
| SCN8A | Orphanet:352582 | Familial infantile myoclonic epilepsy |
| SCN8A | Orphanet:442835 | Non-specific early-onset epileptic encephalopathy |
Cohort genes → proteins
2 cohort genes, 2 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| RHOBTB2 | HGNC:18756 | ENSG00000008853 | Q9BYZ6 | Rho-related BTB domain-containing protein 2 | gencc,clinvar |
| SCN8A | HGNC:10596 | ENSG00000196876 | Q9UQD0 | Sodium channel protein type 8 subunit alpha | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| RHOBTB2 | Rho-related BTB domain-containing protein 2 | Regulator of cell proliferation and apoptosis. |
| SCN8A | Sodium channel protein type 8 subunit alpha | Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradie… |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Ion channel | 1 | 55.8× | 0.036 |
| Other/Unknown | 1 | 0.9× | 0.805 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| RHOBTB2 | Other/Unknown | no | BTB/POZ_dom, Small_GTPase, Small_GTPase_Rho | |
| SCN8A | Ion channel | yes | IQ_motif_EF-hand-BS, Na_channel_asu, Ion_trans_dom |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| right frontal lobe | 1 |
| upper lobe of left lung | 1 |
| upper lobe of lung | 1 |
| Brodmann (1909) area 23 | 1 |
| middle temporal gyrus | 1 |
| postcentral gyrus | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| RHOBTB2 | 213 | ubiquitous | marker | upper lobe of left lung, upper lobe of lung, right frontal lobe |
| SCN8A | 194 | ubiquitous | marker | Brodmann (1909) area 23, middle temporal gyrus, postcentral gyrus |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| RHOBTB2 | 2,577 |
| SCN8A | 2,120 |
Structural data
PDB: 1 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| SCN8A | Q9UQD0 | 7 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| RHOBTB2 | Q9BYZ6 | 81.89 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 9. Enrichment computed across 2 evidence-associated genes (2 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| RHOBTB2 GTPase cycle | 1 | 237.9× | 0.017 | RHOBTB2 |
| Interaction between L1 and Ankyrins | 1 | 184.2× | 0.017 | SCN8A |
| Phase 0 - rapid depolarisation | 1 | 173.0× | 0.017 | SCN8A |
| L1CAM interactions | 1 | 60.1× | 0.033 | SCN8A |
| Cardiac conduction | 1 | 54.4× | 0.033 | SCN8A |
| Muscle contraction | 1 | 38.6× | 0.039 | SCN8A |
| Axon guidance | 1 | 22.6× | 0.052 | SCN8A |
| Nervous system development | 1 | 21.5× | 0.052 | SCN8A |
| Developmental Biology | 1 | 7.2× | 0.134 | SCN8A |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| cortical cytoskeleton organization | 1 | 842.6× | 0.017 | RHOBTB2 |
| cardiac muscle cell action potential involved in contraction | 1 | 351.1× | 0.017 | SCN8A |
| peripheral nervous system development | 1 | 290.6× | 0.017 | SCN8A |
| establishment or maintenance of cell polarity | 1 | 200.6× | 0.017 | RHOBTB2 |
| action potential | 1 | 179.3× | 0.017 | SCN8A |
| sodium ion transport | 1 | 135.9× | 0.017 | SCN8A |
| myelination | 1 | 125.8× | 0.017 | SCN8A |
| sodium ion transmembrane transport | 1 | 101.5× | 0.018 | SCN8A |
| small GTPase-mediated signal transduction | 1 | 91.6× | 0.018 | RHOBTB2 |
| regulation of actin cytoskeleton organization | 1 | 78.8× | 0.019 | RHOBTB2 |
| regulation of cell shape | 1 | 61.5× | 0.021 | RHOBTB2 |
| actin filament organization | 1 | 59.3× | 0.021 | RHOBTB2 |
| ubiquitin-dependent protein catabolic process | 1 | 37.1× | 0.031 | RHOBTB2 |
| protein ubiquitination | 1 | 20.7× | 0.051 | RHOBTB2 |
| signal transduction | 1 | 8.0× | 0.121 | RHOBTB2 |
Therapeutics
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 1
Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| SCN8A | IMIPRAMINE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| SCN8A | 25 | 4 |
| RHOBTB2 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| IMIPRAMINE | 4 | SCN8A |
| SERTINDOLE | 4 | SCN8A |
| PIMOZIDE | 4 | SCN8A |
| NIFEDIPINE | 4 | SCN8A |
| DILTIAZEM | 4 | SCN8A |
| MIBEFRADIL | 4 | SCN8A |
| HALOPERIDOL | 4 | SCN8A |
| MEXILETINE | 4 | SCN8A |
| AMITRIPTYLINE | 4 | SCN8A |
| AMIODARONE | 4 | SCN8A |
| CHLORPROMAZINE | 4 | SCN8A |
| TETRACAINE | 4 | SCN8A |
| TEDISAMIL | 3 | SCN8A |
| NITRENDIPINE | 3 | SCN8A |
| AJMALINE | 3 | SCN8A |
| VIXOTRIGINE | 3 | SCN8A |
| ELECLAZINE | 3 | SCN8A |
| TETRODOTOXIN | 3 | SCN8A |
| CIFENLINE | 2 | SCN8A |
| PF-05089771 | 2 | SCN8A |
| FUNAPIDE | 2 | SCN8A |
| DS-1971 | 2 | SCN8A |
| ZANDATRIGINE | 2 | SCN8A |
| PF-05150122 | 1 | SCN8A |
| PF-05186462 | 1 | SCN8A |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| SCN8A | 173 | Binding:148, Functional:16, ADMET:7, Toxicity:2 |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| SCN8A | 173 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
25 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| IMIPRAMINE | 4 | SCN8A |
| SERTINDOLE | 4 | SCN8A |
| PIMOZIDE | 4 | SCN8A |
| NIFEDIPINE | 4 | SCN8A |
| DILTIAZEM | 4 | SCN8A |
| MIBEFRADIL | 4 | SCN8A |
| HALOPERIDOL | 4 | SCN8A |
| MEXILETINE | 4 | SCN8A |
| AMITRIPTYLINE | 4 | SCN8A |
| AMIODARONE | 4 | SCN8A |
| CHLORPROMAZINE | 4 | SCN8A |
| TETRACAINE | 4 | SCN8A |
| TEDISAMIL | 3 | SCN8A |
| NITRENDIPINE | 3 | SCN8A |
| AJMALINE | 3 | SCN8A |
| VIXOTRIGINE | 3 | SCN8A |
| ELECLAZINE | 3 | SCN8A |
| TETRODOTOXIN | 3 | SCN8A |
| CIFENLINE | 2 | SCN8A |
| PF-05089771 | 2 | SCN8A |
| FUNAPIDE | 2 | SCN8A |
| DS-1971 | 2 | SCN8A |
| ZANDATRIGINE | 2 | SCN8A |
| PF-05150122 | 1 | SCN8A |
| PF-05186462 | 1 | SCN8A |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | SCN8A |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | RHOBTB2 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| RHOBTB2 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.