| Groups of Diseases |
Specific Diseases |
| Progressive Myoclonic Epilepsies |
Ceroid Lipofuscinosis
Sialidosis
Lafora Disease
Unverricht-Lundborg Disease
Neuroaxonal Dystrophy
MERRF
Dentatorubropallidoluysian Atrophy
Other |
| Neurocutaneous Disorders |
Tuberous Sclerosis Complex
Neurofibromatosis
Hypomelanosis of Ito
Epidermal Nevus Syndrome
Sturge - Weber Syndrome |
| Malformations Due to Abnormal Cortical Developments |
Isolated Lissencephaly Sequence
Miller-Dieker Syndrome
X-Linked Lissencephaly
Subcortical Band Heterotopia
Periventricular Nodular Heterotopia
Focal Heterotopia
Hemimegalencephaly
Bilateral Perisylvian Syndrome
Unilateral Polymicrogyria
Schizencephalies Focal or Multifocal Cortical Dysplasia
Microdysgenesis |
| Other Cerebral Malformations |
Aicardi Syndrome
PEHO Syndrome
Acrocallosal Syndrome
Other |
| Tumors |
DNET
Gangliocytoma
Ganglioglioma
Cavernous Angiomas
Astrocytomas
Hypothalamic Hamartoma (with Gelastic Seizures)
Other |
| Chromosomal Abnormalities |
Partial Monosomy 4P or Wolf-Hirschorn Syndrome
Trisomy 12p
Inversion Duplication 15 Syndrome
Ring 20 Chromosome
Other |
| Monogenic Mendelian Diseases with complex Pathogenic Mechanisms |
Fragile X Syndrome
Angelman Syndrome
Rett Syndrome
Other |
| Inherited Metabolic Disorders |
Nonketotic Hyperglycinemia
D-Glyceric Acidemia
Propionic Acidemia
Sulphite-Oxidase Deficiency
Fructose 1-6 Diphosphatase Deficiency Other
Organic Acidurias Pyridoxine - Dependency Aminoacidopathies (Maple
Syrup Urine Disease, Phenylketonuria, Other)
Urea Cycle Disorders
Disorders of Carbohydrate Metabolism
Disorders of Biotin Metabolism
Disorders of Folic Acid and B12 Metabolism
Glucose Transport Protein Deficiency
MenkesÕ Disease
Glycogen Storage Disorders
Krabbe Disease
Fumarase Deficiency
Peroxisomal Disorders
Sanfilippo Syndrome Mitochondrial Diseases (Pyruvate Dehydrogenase
Deficiency, Respiratory Chain Defects, MELAS) |
| Prenatal or Perinatal Ischemic or Anoxic Lesions or Cerebral Infections
Causing Nonprogressive Encephalopathies |
Porencephaly
Periventricular Leukomalasia
Microcephaly
Cerebral Calcifications and other Lesions due to Toxoplasmosis, CVI,
HIV, etc. |
| Postnatal Infections |
Cysticercosis
Herpes Encephalitis
Bacterial Meningitis
Other |
| Other Postnatal Factors |
Head Injury
Alcohol and Drugs Abuse
Stroke
Other |
| Miscellaneous |
Celiac Disease (Epilepsy with occipital calcifications
and Celiac Disease)
Coffin-Lowry Syndrome
Alzheimer's Disease
Huntington Disease
Alpers' Disease |
