Focal seizures in a patient with myotonic disorder type 2 co-segregating with a chloride voltage-gated channel 1 gene mutation: a case report.
BACKGROUND
Myotonic dystrophy type 2 is a multisystem disorder with both neurological and non-neurological signs and symptoms. Seizures are not a commonly associated neurological feature of this disorder.


METHODS
A 57-year-old white American man presented with a long history of clinical and electrophysiological features of a myotonic disorder. He also developed multiple episodes of focal seizures and underwent a series of investigations which showed no structural or metabolic etiology. Genetic testing revealed that he had an expansion mutation in CCHC-type zinc finger, nucleic acid binding protein gene confirming the diagnosis of myotonic disorder type 2 and carried a mutation in the chloride voltage-gated channel 1 gene.


CONCLUSIONS
We report a rare association between myotonic dystrophy type 2 and a seizure disorder. The pathophysiology of a possible relationship between these two neurological conditions is discussed.
The Neuro-genetics Institute, 501 Elmwood Ave, Sharon Hill, PA, USA.
Leema Reddy
LR
Peddareddygari
The Neuro-genetics Institute, 501 Elmwood Ave, Sharon Hill, PA, USA.
Arman Singh
AS
Grewal
Neuroscience Institute, Saint Francis Medical Center, 601 Hamilton Avenue, Trenton, NJ, USA. RGrewal@stfrancismedical.org.
Raji Paul
RP
Grewal
D018118:Chloride Channels / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000150:complications* / Q000235:genetics; D012640:Seizures / Q000150:complications* / Q000235:genetics
C086321:CLC-1 channel; D018118:Chloride Channels
CNBP and CLCN1 gene mutations; Case report; Myotonia; Myotonic dystrophy type 2; Seizures