Forms and Documents
- Adenylosuccinate Lyase Deficiency
- Alpers syndrome (Alpers-Huttenlocher syndrome)
- Angelman syndrome (AS)
- Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
- Atypical Rett Syndrome
- Benign Familial Neonatal Seizures (BFNS)
- Benign Familial Neonatal-Infantile Seizures (BFNIS)
- Creatine Deficiency Syndromes
- Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
- Epilepsy and Mental Retardation Limited to Females
- Epilepsy with Variable Learning and Behavioral Disorders
- Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
- Glucose Transporter Type I Deficiency Syndrome
- Lafora Disease
- Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
- Mowat-Wilson Syndrome
- Neuronal Ceroid Lipofuscinoses (NCL)
- Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
- Ohtahara Syndrome
- Partial Epilepsy with Auditory Features, Autosomal Dominant
- Progressive Myoclonic Epilepsy
- Pyridoxine Dependent Seizures
- Rett syndrome
- Unverricht-Lundborg Disease (Baltic Myoclonus)
- West Syndrome
- Molecular confirmation of a clinical diagnosis
- To assist with decisions about treatment and management of individuals with epilepsy
- Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
- Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
- Exon Array CGH
- Next-Gen Sequencing
- Bennett S. Pharmacogenomics (2004) 5:433-8.
- Andrade DM. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brains. Hum Genet (2009) 126:173-193.
- Macdonald et al. Mutations in GABA receptor subunits associated with genetic epilepsies. J Physiol (2010) 588:1861-1869.
- Ottman et al. Genetic testing in the epilepsies – Report of the ILAE Genetics Commission. Epilepsia (2010) 51:655-670.
- Weber et al., Genetic mechanisms in idiopathic epilepsy Dev Med Child Neurol (2008) 50:648-654.
- Nicita et al., The genetics of monogenic idiopathic epilepsies and epileptic encephalopathy Seizure: Eur J Epilepsy (2011) doi:10.1016/j.seizure.2011.08.007
- Deprez et al. Genetics of epilepsy syndromes starting in the first year of life. Neurology (2009) 72:273-281.
- Berg et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commision on Classification and Terminology, 2005- 2009. Epilepsia (2010) 51: 676-685.
- Ramachandran et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes Epilepsia (2009) 50:29-36.
- Steinlein et al. Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci (2004) 5:401-408.
- Pal et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol (2010) 6:445-453
- Pellock, JM. Understanding co-morbidities affecting children with epilepsy. Neurol (2004) 62:S17-S23.
- Pong et al. Developments in molecular genetic diagnostics: An update for the pediatric epilepsy specialist Pediatr Neurol (2011) 44:317-327