| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy
|
Verhoeven, Willem M.A.
|
|
2012
|
55 |
5 |
p. 358-361
4 p.
|
article
|
| 2 |
Another cause of vaccine encephalopathy: A case of Angelman syndrome
|
Novy, Jan
|
|
2012
|
55 |
5 |
p. 338-341
4 p.
|
article
|
| 3 |
Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities
|
Galizia, Elizabeth C.
|
|
2012
|
55 |
5 |
p. 342-348
7 p.
|
article
|
| 4 |
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia
|
Fergelot, Patricia
|
|
2012
|
55 |
5 |
p. 313-318
6 p.
|
article
|
| 5 |
Clinical review of genetic epileptic encephalopathies
|
Noh, Grace J.
|
|
2012
|
55 |
5 |
p. 281-298
18 p.
|
article
|
| 6 |
De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: A genomics approach to personalized medicine
|
O’Leary, Ryan E.
|
|
2012
|
55 |
5 |
p. 349-353
5 p.
|
article
|
| 7 |
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter–Tönz syndrome
|
Schossig, Anna
|
|
2012
|
55 |
5 |
p. 319-322
4 p.
|
article
|
| 8 |
GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder
|
Graham Jr., John M.
|
|
2012
|
55 |
5 |
p. 332-334
3 p.
|
article
|
| 9 |
Molecular bases and clinical spectrum of early infantile epileptic encephalopathies
|
Tavyev Asher, Y. Jane
|
|
2012
|
55 |
5 |
p. 299-306
8 p.
|
article
|
| 10 |
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
|
Valetto, Angelo
|
|
2012
|
55 |
5 |
p. 362-366
5 p.
|
article
|
| 11 |
Neurological findings in incontinentia pigmenti; a review
|
Meuwissen, Marije E.C.
|
|
2012
|
55 |
5 |
p. 323-331
9 p.
|
article
|
| 12 |
Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister–Killian syndrome
|
Filloux, Francis M.
|
|
2012
|
55 |
5 |
p. 367-373
7 p.
|
article
|
| 13 |
Preface
|
Graham Jr., John M.
|
|
2012
|
55 |
5 |
p. 279-280
2 p.
|
article
|
| 14 |
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features
|
Noh, Grace J.
|
|
2012
|
55 |
5 |
p. 354-357
4 p.
|
article
|
| 15 |
Ring chromosome 20
|
Daber, Robert D.
|
|
2012
|
55 |
5 |
p. 381-387
7 p.
|
article
|
| 16 |
Seizures and X-linked intellectual disability
|
Stevenson, Roger E.
|
|
2012
|
55 |
5 |
p. 307-312
6 p.
|
article
|
| 17 |
Stimulus-induced drop episodes in Coffin–Lowry syndrome
|
Hahn, Jin S.
|
|
2012
|
55 |
5 |
p. 335-337
3 p.
|
article
|
| 18 |
The ring 14 syndrome
|
Zollino, Marcella
|
|
2012
|
55 |
5 |
p. 374-380
7 p.
|
article
|
Journal description