Approach to epileptic encephalopathies

This is an old revision of the document!

Chromosomopathies
Single enzyme or protein dysfunction
- Cyclin-dependent kinase-like 5 (CDKL5) deficiency
- Rett Syndrome (MeCP2, CDKL5 or FOXG1-related)
Cerebral malformations associated disorders
- Focal cortical dysplasia (TSC1 and TSC2)
- Polymicrogyria (SRPX2, KIAA1279, GPR56, PAX6, TBR2, COL18A1, RAB3GAP1, 22q11, FLN1A, ARFGEF2, LRP)
- 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)
- Miller-Dieker syndrome
- Smith-Lemli–Opitz syndrome
Disorders of amino acids metabolism
- Phenylketonuria and hyperphenylalaninemias
Vitamin or enzymatic cofactor dependency
Purine and pyrimidine metabolism disorders
- Adenilosuccinate lyase deficiency
- Dihydropyriminidase and Dihydropyrimidine dehydrogenase deficiency

Energetic failure
- GLUT1 deficiency syndrome
- 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)

Acute multiorgan involvement
- Endogenous toxicity
  - Urea cycle disorders
  - Organic acidurias
  - Congenital disorders of glycosylation
  - Glutathione synthetase deficiency
  - Mitochondrial disorders (SUCLA2, SUCLG1)
- Vitamin or enzymatic cofactor dependency
  - Biotin metabolism disorders
- Neurotransmitters disorders
  - Congenital glutamine deficiency
- 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
  - Lysosomal disorder (Krabbe disease)
  - 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