Familial partial epilepsy

Summary

Familial partial epilepsy (MONDO:0017704) is a disease (an umbrella term covering 7 Mondo subtypes) with 1 cohort gene.

At a glance

• Umbrella term: 7 Mondo subtypes
• Cohort genes: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	familial partial epilepsy
Mondo ID	MONDO:0017704
Orphanet	309
UMLS	C5680862
MedGen	1826100
GARD	0002173
Is cancer (heuristic)	no

Also known as: epilepsy, partial, familial · familial focal epilepsy · hereditary partial epilepsy

Data availability: 1 GenCC gene-disease record.

Disease family

An umbrella term covering 7 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › epilepsy › focal epilepsy › familial partial epilepsy

Related subtypes (8): frontal lobe epilepsy, simple partial epilepsy, complex partial epilepsy, partial motor epilepsy, partial sensory epilepsy, combined generalized and focal epilepsy, variable-age onset focal epilepsy syndrome, childhood-onset self-limited focal epilepsy syndrome

Subtypes (7): familial sleep-related hypermotor epilepsy, temporal lobe epilepsy, self-limited epilepsy with centrotemporal spikes, autosomal dominant epilepsy with auditory features, generalized epilepsy-paroxysmal dyskinesia syndrome, familial focal epilepsy with variable foci, mesial temporal lobe epilepsy with hippocampal sclerosis

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 0 · 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
PIK3C2B	Moderate	Autosomal dominant	familial partial epilepsy

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PIK3C2B	HGNC:8972	ENSG00000133056	O00750	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PIK3C2B	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta	Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PIK3C2B	Kinase	yes	2.7.1.137	C2_dom, PI3K_Ras-bd_dom, PI3/4_kinase_cat_dom

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
gingival epithelium	1
inferior vagus X ganglion	1
pancreatic ductal cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PIK3C2B	285	ubiquitous	marker	pancreatic ductal cell, inferior vagus X ganglion, gingival epithelium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PIK3C2B	1,238

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PIK3C2B	O00750	75.07

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Synthesis of PIPs at the plasma membrane	1	211.5×	0.005	PIK3C2B

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
autophagosome organization	1	3370.4×	0.002	PIK3C2B
phosphatidylinositol-3-phosphate biosynthetic process	1	1296.3×	0.002	PIK3C2B
phosphatidylinositol-mediated signaling	1	702.2×	0.003	PIK3C2B
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1	210.7×	0.006	PIK3C2B
cellular response to starvation	1	193.7×	0.006	PIK3C2B
cell migration	1	61.5×	0.016	PIK3C2B

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) 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
PIK3C2B	LAPATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PIK3C2B	16	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
LAPATINIB	4	PIK3C2B
MIDOSTAURIN	4	PIK3C2B
DACTOLISIB	3	PIK3C2B
BUPARLISIB	3	PIK3C2B
TASELISIB	3	PIK3C2B
GEDATOLISIB	3	PIK3C2B
LESTAURTINIB	3	PIK3C2B
IZORLISIB	2	PIK3C2B
APITOLISIB	2	PIK3C2B
TG100-115	2	PIK3C2B
GSK-2636771	2	PIK3C2B
BIMIRALISIB	2	PIK3C2B
AZD-8154	2	PIK3C2B
PICTILISIB	2	PIK3C2B
ZSTK-474	2	PIK3C2B
GSK-461364	1	PIK3C2B

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PIK3C2B	212	Binding:211, ADMET:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PIK3C2B	2.7.1.137, 2.7.1.154	phosphatidylinositol 3-kinase, phosphatidylinositol-4-phosphate 3-kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
PIK3C2B	212

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

16 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)
LAPATINIB	4	PIK3C2B
MIDOSTAURIN	4	PIK3C2B
DACTOLISIB	3	PIK3C2B
BUPARLISIB	3	PIK3C2B
TASELISIB	3	PIK3C2B
GEDATOLISIB	3	PIK3C2B
LESTAURTINIB	3	PIK3C2B
IZORLISIB	2	PIK3C2B
APITOLISIB	2	PIK3C2B
TG100-115	2	PIK3C2B
GSK-2636771	2	PIK3C2B
BIMIRALISIB	2	PIK3C2B
AZD-8154	2	PIK3C2B
PICTILISIB	2	PIK3C2B
ZSTK-474	2	PIK3C2B
GSK-461364	1	PIK3C2B

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	PIK3C2B
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	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.