Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene

被引：9

作者：

Mastrangelo, Vincenzo ^{[1
]}

Minardi, Raffaella ^{[2
,3
]}

Baroni, Maria Chiara ^{[1
]}

Severi, Giulia ^{[4
]}

Ambrosini, Enrico ^{[4
]}

Toni, Francesco ^{[5
]}

Alvisi, Lara ^{[1
,2
,3
]}

Licchetta, Laura ^{[1
,2
,3
]}

Bisulli, Francesca ^{[1
,2
,3
]}

Tinuper, Paolo ^{[1
,2
,3
]}

Mostacci, Barbara ^{[2
,3
]}

机构：

[1] Univ Bologna, Dept Biomed & Neuromotor Sci DIBINEM, Bologna, Italy

[2] IRCCS Ist Sci Neurol Bologna, Bologna, Italy

[3] ERN EpiCARE, Bologna, Italy

[4] Policlin St Orsola, UO Genet Med, Bologna, Italy

[5] IRCCS Ist Sci Neurol Bologna, UOC Neuroradiol, Bologna, Italy

来源：

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2020年 / 83卷

关键词：

Jeavons syndrome; Generalized epilepsy; NSD1; Overgrowth; Macrocephaly;

D O I：

10.1016/j.seizure.2020.10.016

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：169 / 171

页数：3

共 4 条

[1] Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features [J].

Almuriekhi, Mariam ;

Shintani, Takafumi ;

Fahiminiya, Somayyeh ;

Fujikawa, Akihiro ;

Kuboyama, Kazuya ;

Takeuchi, Yasushi ;

Nawaz, Zafar ;

Nadaf, Javad ;

Kamel, Hussein ;

Kitam, Abu Khadija ;

Samiha, Zaineddin ;

Mahmoud, Laila ;

Ben-Omran, Tawfeg ;

Majewski, Jacek ;

Noda, Masaharu .

CELL REPORTS, 2015, 10 (09) :1585-1598

[2] Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay [J].

Lee, Sangmoon ;

Chen, Dillon Y. ;

Zaki, Maha S. ;

Maroofian, Reza ;

Houlden, Henry ;

Di Donato, Nataliya ;

Abdin, Dalia ;

Morsy, Heba ;

Mirzaa, Ghayda M. ;

Dobyns, William B. ;

McEvoy-Venneri, Jennifer ;

Stanley, Valentina ;

James, Kiely N. ;

Mancini, Grazia M. S. ;

Schot, Rachel ;

Kalayci, Tugba ;

Altunoglu, Umut ;

Karimiani, Ehsan Ghayoor ;

Brick, Lauren ;

Kozenko, Mariya ;

Jamshidi, Yalda ;

Manzini, M. Chiara ;

Toosi, Mehran Beiraghi ;

Gleeson, Joseph G. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 105 (04) :844-853

[3] Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late [J].

Minardi, Raffaella ;

Licchetta, Laura ;

Baroni, Maria Chiara ;

Pippucci, Tommaso ;

Stipa, Carlotta ;

Mostacci, Barbara ;

Severi, Giulia ;

Toni, Francesco ;

Bergonzini, Luca ;

Carelli, Valerio ;

Seri, Marco ;

Tinuper, Paolo ;

Bisulli, Francesca .

CLINICAL GENETICS, 2020, 98 (05) :477-485

[4] Eyelid myoclonia with absences (Jeavons syndrome): A well-defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions? [J].

Striano, Salvatore ;

Capovilla, Giuseppe ;

Sofia, Vito ;

Romeo, Antonino ;

Rubboli, Guido ;

Striano, Pasquale ;

Trenite, Dorothee Kasteleijn-Nolst .

EPILEPSIA, 2009, 50 :15-19

← 1 →