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Approach to epileptic encephalopathies
Presenting with seizures as prominent/unique symptom
- Vitamin or enzymatic cofactor dependency
- Channelopathy
- Unknown/multiple etiology
- Ohtahara syndrome (EIEE)
- Single enzyme or protein dysfunction
- Syntaxin binding Protein 1 (STXBP1) deficiency
- Glutamate mitochondrial transporters deficiencies (SLC25A22 and SLC25A18)
- Disorders of amino acids metabolism
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Presenting with seizures associated in a syndromic phenotype
- Chromosomopathies
- Single enzyme or protein dysfunction
- Rett Syndrome (MeCP2, CDKL5 or FOXG1-related)
- Cerebral malformations associated disorders
- Focal cortical dysplasia (TSC1 and TSC2)
- Subcortical band heterotopia (DCX, LIS1, trisomy 9p)
- Periventricular nodular heterotopia (unbalanced translocation,t[1; 6][p12; p12.2)]
- Lissencephaly (LIS1, DCX, microdeletion in 17p including LIS1 and YwaE, ARX, TUBA1A, RELN)
- Schizencephaly (EMX2 involved in sporadic cases)
- Early infantile epileptic encephalopathy type I (ARX-related EIEE1)
- Disorders of amino acids metabolism
- Vitamin or enzymatic cofactor dependency
- Purine and pyrimidine metabolism disorders
Presenting with seizures associatd with movement disorders
- Energetic failure
- Creatine deficiency syndromes (AGAT, GAMT and X-linked creatine transporter deficiency)
- Cerebral malformations associated disorders
- EIEE1 (ARX-related epileptic encephalopathy)
- Neurotransmitters disorders
- 4-hydroxybutyric aciduria (SSADH)
Presenting with seizures associated with acute multiorgan involvement
- Acute multiorgan involvement
- Endogenous toxicity
- Glutathione synthetase deficiency
- Vitamin or enzymatic cofactor dependency
- Neurotransmitters disorders
- Channelopathy
- Developmental delay, Epilepsy and Neonatal Diabetes (DEND syndrome)
- Single enzyme or protein dysfunction
- Hyperinsulinism/Hyperammoniemia (HI/HA)
- Chronic multiorgan involvement
- Energetic failure
- Mitochondrial disorders (Leigh syndrome, multiple deletion syndrome or Alpers disease, pyruvate dehydrogenase deficiency)
- Storage disorders
- Peroxisomal disorder (neonatal adrenoleukodystrophy, Zellweger syndrome, infantile Refsum disease, punctuate rhyzomelic chondrodysplasia)
- Niemann-Pick disease type A and C
- Neuronal ceroid lipofuscinosis
- Single enzyme or protein dysfunction
- MAGI2 deletion syndrome
- Disorders of amino acids metabolism
- Serine byosynthesis disorders
- Unknown
- Nesidioblastosis
Discussion