Other epilepsy syndrome (eg, Lennox-Gastaut syndrome, channelopathies such as SCN1A or SCN2A)
Other metabolic syndromes that may be associated with myoclonic epilepsy (eg, sialidosis and galactosialidosis)
In children with progressive neurodegeneration, who have be en diagnosed with:
Gray matter diseases associated with dementia and epilepsy:
Other NCL disorders, particularly late-infantile onset variants of CLN5, CLN6, CLN7, CLN8, CLN14
Gangliosidoses (eg, Tay-Sachs disease)
Mucopolysaccharidoses (eg, type III)
Mucolipidoses
Niemann-Pick C disease
Peroxisomal disorders
Mitochondrial disorders
White matter diseases associated with motor function and significant abnormality on MRI
Leukodystrophies, in particular:
Krabbe disease
Metachromatic leukodystrophy
Adrenoleukodystrophy
Other progressive pediatric brain disorders should be excluded:1
Inflammation and infections
Tumors
Hydrocephalus
Toxic disturbances
BioMarin has partnered with Invitae to bring you the Behind the Seizure® program—a no-charge epilepsy gene panel testing program to help you diagnose CLN2 disease early.
In as little as 2 weeks, an epilepsy gene panel test can bring you and your eligible patients closer to identifying if there is a genetic cause behind the seizure.
Reference: 1. Chang M, Cooper JD, Davidson BL, et al. CLN2. In: Mole S, Williams R, and Goebel H, eds. The neuronal ceroid lipofuscinoses (Batten Disease). 2nd ed. Oxford, United Kingdom: Oxford University Press; 2011:80-109.