Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
M. Milh, N. Villeneuve, and M. Chouchane et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations Epilepsia 52 2011 1828 1834
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
H. Saitsu, M. Kato, and T. Mizuguchi et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy Nat Genet 40 2008 782 788
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
L. Deprez, S. Weckhuysen, and P. Holmgren et al. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations Neurology 75 2010 1159 1165
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients
C. Mignot, M.L. Moutard, and O. Trouillard et al. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients Epilepsia 52 2011 1820 1827
Intellectual disability without epilepsy associated with STXBP1 disruption
F.F. Hamdan, J. Gauthier, and S. Dobrzeniecka et al. Intellectual disability without epilepsy associated with STXBP1 disruption Eur J Human Genet 19 2011 607 609
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
R.C. Gallagher, J.L. Van Hove, and G. Scharer et al. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy Ann Neurol 65 2009 550 556
Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures
3S48-3S55. discussion 3S56
K. Hyland, and L.A. Arnold Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures J Child Neurol 17 Suppl 3 2002 3S48-3S55. discussion 3S56
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy
H.C. Mefford, J. Cook, and S.M. Gospe Jr. Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy Am J Med Genet A 158A 2012 3190 3195