Rare Disease Library

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

WWOX-related epileptic encephalopathy

Acute encephalopathy with inflammation-mediated status epilepticus

ARX-related epileptic encephalopathy

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

FOXG1 syndrome

FOXG1-related epileptic-dyskinetic encephalopathy

Infantile epileptic-dyskinetic encephalopathy

Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome

HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome · HPDL-related Leigh-like encephalopathy

KCNQ2-related developmental and epileptic encephalopathy

KCNQ2-DEE

MECP2-related severe neonatal encephalopathy

Severe congenital encephalopathy due to MECP2 mutation

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

COQ4-related neonatal encephalomyopathy

Non-specific early-onset epileptic encephalopathy

Non-specific EOEE · Undetermined early-onset epileptic encephalopathy

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures

RNF13-related severe early-onset epileptic encephalopathy

RNF13-related severe EOEE

STXBP1-related encephalopathy

SYNGAP1-related developmental and epileptic encephalopathy

SYNGAP1-related DEE