Table 5.

Genotype.

	Nonepileptic NF1 Patients (n = 747)	Epileptic NF1 Patients (n = 37)
Untested	214	4
(% of cohort)	(28.6)	(10.8)
At least one test	525	31
(% of cohort)	(70.2)	(83.8)
Tested for 17q11 microdeletion only	61	6
(% of cohort)	(8.2)	(18.2)
			p-value
17q11 microdeletion	22	2
(% of cohort)	(2.9)	(5.4)	0.3145
(% of confirmed molecular defects)	(4.9)	(8.3)	0.3533
Identified mutation	421	22
(% of cohort)	(56.3)	(59.4)
(% of MLPA and NGS analyses)	(90.7)	(88)
Nonsense or frameshift mutation	264	15
(% of cohort)	(35.3)	(40.5)	0.5981
(% of confirmed molecular defects)	(59.6)	(62.5)	0.8339
Missense mutation	64	1
(% of cohort)	(8.6)	(2.7)	0.3545
(% of confirmed molecular defects)	(14.4)	(4.2)	0.2276
Splicing mutation	69	6
(% of cohort)	(9.2)	(16.2)	0.6128
(% of confirmed molecular defects)	(15.6)	(25)	0.2494
In frame mutation	8
(% of cohort)	(1.1)	-	1
(% of confirmed molecular defects)	(1.8)
Exonic/multiexonic deletion	12
(% of cohort)	(1.6)	-	1
(% of confirmed molecular defects)	(2.7)
Other	4
(% of cohort)	(0.5)	-	1
(% of confirmed molecular defects)	(0.9)
No causative mutation or CNV detected	43	3
(% of tested patients)	(8.2)	(9.1)