Detection of Two Missense Substitutions in Gene EPM2B in Patients of Myoclonic Epilepsy from Balochistan
Detection of Two Missense Substitutions in Gene EPM2B in Patients of Myoclonic Epilepsy from Balochistan
Akram Ali Baloch1*, Adeel Ahmad2, Kaleem U. Kakar3, Sara Naudhani1, Samiullah Khan1, Agha Muhammad Raza3, Imrana Niaz Sultan1, Humaira Zahid4, Saadullah3 and Shakeela Daud1*
Fig. 1.
Pedigrees of the families.
Fig. 2.
Generalized sharp and slow activity was observed. EEG is suggestive of generalized epilepsy disorder.
Fig. 3.
Missense substitution c.830C>A (p.Ala277Glu)) identified in family 1.
Fig. 4.
Missense substitution c.332C>T (p.Pro111Leu) identified in family 2.
December 2023
Pakistan J. Zool., Vol. 55, Iss. 6, pp. 2501-3000
