Condition Presentation Key investigations Treatment Autosomal-recessive guanosine triphosphate (GTP) cyclohydrolase 1 (AR-GCH1) deficiency without hyperphenylalaninaemia (those with high blood phenylalanine will have been detected by neonatal screening test) 'Cerebral palsy'; oculogyric crises, tremulousness, bradykinesia Avoid levodopa trial to prevent diagnostic confusion, phenylalanine loading test is simple to perform: 4 hour blood spot phenylalanine level will be high as will phenylalanine/tyrosine ratio. C5F pterins low, monoamine...

Infancy (first 2 years of life) Neonatal Prader - Willi syndrome - hypokinesia and limb dystonia - fluorescent in situ hybridization/multiplex ligation-dependent probe amplification for deletion paternally inherited chromosome 15

Comparitive genomic hybridization (CGH) or Chromosomal microarray analysis(CMA) is a modern cytogenetic technique for analyzing variations in DNA copy-number. Alteration in DNA copy number is one of the many ways in which modification of gene expression and function occurs. The technology was initially used for studying chromosomal imbalances in solid tumours.

Introduction Paediatric EEG Normal Awake 3-12 months 14 months-2years 3-4 years 5-10 years 11-16 years Hyperventilation Normal Drowsiness, Sleep, Arousal Drowsy patterns Burst Drowsy Patterns V Waves Spindles V Waves and Spindles Positive Occipital Sharp Transients of Sleep (POSTS)...

The differential diagnosis of progressive myoclonus epilepsy (PME) with onset between late childhood and late adolescence includes neuronal ceroid lipofuscinosis, type I sialidosis, and myoclonic epilepsy with ragged red fibers. However, the two most common forms of PME in this age group are Lafora disease and Unverricht–Lundborg disease (ULD).

Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth.

Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI named "Dravet syndrome" because of the lack of myoclonic seizures in many patients and is considered under Electroclinical syndromes.

Anti NMDAR encephalitis is an acute Encephalitis associated with antibodies against N-methyl-D-aspartate (NMDA)-type glutamate receptors and is now considered a distinct clinical entity