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and that other afebrile seizures (of multiple types) may occur in later childhood or adult life.
Mutations in a number of genes have been associated with this disorder including SCN1A,
SCN1B, GABARG2 and PCDH19.

Summary and conclusions

 Although the newborn period is the time of life when epileptic seizures occur most
commonly, firstly not all involuntary including ‘jerky’ or ‘twitchy’ movements are
epileptic and secondly, most causes of genuine epileptic seizures are secondary to (or
symptomatic of), an underlying cause. If in doubt that the movements or other
paroxysmal events (e.g. autonomic changes) are epileptic – do not diagnose epilepsy

 There are a relatively large number of epilepsy syndromes that have an onset in
infancy (the first year of life) and most are associated with a poor prognosis, both in
terms of seizure control and eventual spontaneous remission but also development
and cognitive functioning

 Never overlook a simple biochemical or metabolic cause of seizures in neonates and
infants (specifically, glucose, calcium and sodium)

 Cranial ultrasound and skull radiographs are of little diagnostic value when
evaluating the cause of an infant’s seizures. MRI is the imaging modality of choice
– particularly when considering malformations of cortical development as a cause of
the epilepsy

 Genetic investigations, such as the Rett syndrome mutations (MECP2 and CDKL5)
should be considered early when confronted with a child with intractable seizures
and no obvious cause; infantile gene panels using next-generation sequencing of
increasing numbers of known genes are becoming available and are likely to replace
single-gene testing in time.

 Avoid polypharmacy (the simultaneous use of more than two AEDs) in treating
seizures in infancy. When about to add another AED, always try and withdraw
another one first or simultaneously – this is always easier said than done.

References

1. ANDERSON, V.E., HAUSER, W.A. and RICH, S.S. (1986) Genetic heterogeneity in the epilepsies. In:
Advances in Neurology (Eds A.V. Delgado-Escueta et al), Vol. 44. Raven Press, New York.

2. VOLPE, J.J. (1989) Neonatal seizures: current concepts and revised classification. Paediatrics 84, 422-428.
3. KRAMER, U. (1999) Epilepsy in the first year of life: A review. J Child Neurol 14, 485-489.
4 ARCHER, H.L., EVANS, J., EDWARDS, S. (2006) CDKL5 mutations cause infantile spasms, early onset

seizures, and severe mental retardation in female patients. J Med Genet 43, 729-734.
5. BAXTER, P., GRIFFITHS, P., KELLY, T. et al (1996). Pyridoxine dependent seizures: demographic, clinical,

MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 38, 998-
1006.
6. WANG, H.S., KUO, M.F., CHOU, M.L. et al (2005) Pyridoxal phosphate is better than pyridoxine for
controlling idiopathic intractable epilepsy. Arch Dis Childhood 90, 512-515.
7. GOSPE, S.M, Jr. (2006) Pyridoxine-dependent seizures: new genetic and biochemical clues to help with
diagnosis and treatment. Curr Opin Neurol 19, 148-153.
8. CARLSSON, M., HAGBERG, G. and OLSSON, I. (2003) Clinical and aetiological aspects of epilepsy in
children with cerebral palsy. Dev Med Child Neurol 45, 371-376.
9. PLOUIN, P. and ANDERSON, V.E. (2002) Benign familial and non-familial neonatal seizures. In: Epileptic
Syndromes in Infancy, Childhood and Adolescence (3rd edition), (Eds J. Roger et al). John Libbey, London.
10. MARSH, E., MELAMED, S.E., BARRON, T. (2005) Migrating partial seizures in infancy: expanding the
phenotype of a rare syndrome. Epilepsia 46, 568-572.
11. McTAGUE, A., APPLETON, R., AVULA, S. et al (2013) Migrating partial seizures of infancy: expansion of
the electroclinical, radiological and pathological disease spectrum. Brain 136(Pt 5):1578-1591.
12. BEARDEN, D., STRONG, A., EHNOT, J., DIGIOVINE, M., DLUGOS, D. and GOLDBERG, E.M. (2014)
Targeted treatment of migrating partial seizures of infancy with quinidine. Ann Neurol 76(3):457-461.
13. AICARDI, J. and OHTAHARA, S. (2002) Severe neonatal epilepsies with suppression-burst pattern. In:
Epileptic Syndromes in Infancy, Childhood and Adolescence (3rd edition), (Eds J. Roger et al). John Libbey,
London.