| 1 |
A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.
61
6
|
Weber YG...Lerche H
|
18479394 |
2008 |
| 2 |
SCN1A Seizure Disorders
61
6
|
Miller IO...Sotero de Menezes MA
|
20301494 |
2007 |
| 3 |
A gamma 2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface.
61
6
|
Frugier G...Garret M
|
17148443 |
2007 |
| 4 |
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.
61
6
|
Scheffer IE...Berkovic SF
|
17020904 |
2007 |
| 5 |
A novel GABRG2 mutation associated with febrile seizures.
61
6
|
Audenaert D...De Jonghe P
|
16924025 |
2006 |
| 6 |
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.
61
6
|
Audenaert D...De Jonghe P
|
14504340 |
2003 |
| 7 |
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
61
6
|
Fujiwara T...Inoue Y
|
12566275 |
2003 |
| 8 |
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
61
6
|
Wallace RH...Mulley JC
|
12011299 |
2002 |
| 9 |
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation.
61
6
|
Tammaro P...Moran O
|
11866477 |
2002 |
| 10 |
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.
61
6
|
Harkin LA...Petrou S
|
11748509 |
2002 |
| 11 |
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
61
6
|
Abou-Khalil B...George AL
|
11756608 |
2001 |
| 12 |
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.
61
6
|
Lerche H...Lehmann-Horn F
|
11591834 |
2001 |
| 13 |
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
61
6
|
Sugawara T...Yamakawa K
|
11524484 |
2001 |
| 14 |
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
61
6
|
Baulac S...LeGuern E
|
11326274 |
2001 |
| 15 |
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
61
6
|
Wallace RH...Berkovic SF
|
11254444 |
2001 |
| 16 |
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
61
6
|
Escayg A...Meisler MH
|
11254445 |
2001 |
| 17 |
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
61
6
|
Escayg A...Malafosse A
|
10742094 |
2000 |
| 18 |
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.
61
6
|
Moulard B...Malafosse A
|
10521305 |
1999 |
| 19 |
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.
61
6
|
Baulac S...LeGuern E
|
10486327 |
1999 |
| 20 |
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.
61
6
|
Singh R...Berkovic SF
|
9894880 |
1999 |
| 21 |
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
61
6
|
Wallace RH...Mulley JC
|
9697698 |
1998 |
| 22 |
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
6
|
Schubert J...Lerche H
|
25362483 |
2014 |
| 23 |
Agonist-dependent endocytosis of γ-aminobutyric acid type A (GABAA) receptors revealed by a γ2(R43Q) epilepsy mutation.
6
|
Chaumont S...Garret M
|
23935098 |
2013 |
| 24 |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
6
|
Burgunder JM...EFNS
|
20298421 |
2010 |
| 25 |
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes.
6
|
Dibbens LM...Petrou S
|
20437590 |
2010 |
| 26 |
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
6
|
Singh NA...Leppert MF
|
19763161 |
2009 |
| 27 |
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.
6
|
Kang JQ...Macdonald RL
|
16510738 |
2006 |
| 28 |
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy.
6
|
Buoni S...Sorrentino V
|
16505326 |
2006 |
| 29 |
Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children.
6
|
Haider MZ...Al-Bloushi M
|
16205844 |
2005 |
| 30 |
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families.
6
|
Wallace DF...Subramaniam N
|
15710580 |
2005 |
| 31 |
A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors.
6
|
Sancar F...Czajkowski C
|
15342642 |
2004 |
| 32 |
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
6
|
Kananura C...Steinlein OK
|
12117362 |
2002 |
| 33 |
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
6
|
Wallace RH...Berkovic SF
|
11326275 |
2001 |
| 34 |
Clinical heterogeneity in pedigrees with 2q-linked febrile seizures.
6
|
Moulard B...Malafosse A
|
10852559 |
2000 |
| 35 |
Locus for febrile seizures.
6
|
Scheffer IE...Berkovic SF
|
10852560 |
2000 |
| 36 |
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24.
6
|
Peiffer A...Leppert M
|
10514109 |
1999 |
| 37 |
FARP1 boosts CDC42 activity from integrin αvβ5 signaling and correlates with poor prognosis of advanced gastric cancer.
61
|
Hirano T...Natsugoe S
|
32029704 |
2020 |
| 38 |
Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation.
61
|
Xie Y...O'Dowd DK
|
31786370 |
2020 |
| 39 |
Multifaceted role of SMCR8 as autophagy regulator.
61
|
Jung J...Behrends C
|
28696821 |
2020 |
| 40 |
DOCK family proteins: key players in immune surveillance mechanisms.
61
|
Kunimura K...Fukui Y
|
31630188 |
2020 |
| 41 |
Regulation and functions of RhoU and RhoV.
61
|
Hodge RG...Ridley AJ
|
29189096 |
2020 |
| 42 |
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.
61
|
Till A...Hadzsiev K
|
31765958 |
2020 |
| 43 |
Signaling adaptor protein Crk is involved in malignant feature of pancreatic cancer associated with phosphorylation of c-Met.
61
|
Uemura S...Tanaka S
|
32005519 |
2020 |
| 44 |
Phosphatidic acid regulates subcellular distribution of RA-GEFs critical for chemokine-dependent migration.
61
|
Momoi Y...Katagiri K
|
31996307 |
2020 |
| 45 |
Rab35-GEFs, DENND1A and folliculin differentially regulate podocalyxin trafficking in two- and three-dimensional epithelial cell cultures.
61
|
Kinoshita R...Fukuda M
|
31992598 |
2020 |
| 46 |
Vav2 lacks calcium entry-promoting scaffolding functions unique to Vav1 and inhibits T cell activation via Cdc42.
61
|
Fray MA...Bunnell SC
|
31974114 |
2020 |
| 47 |
The small GTPase Rab5a and its guanine nucleotide exchange factors are involved in post-Golgi trafficking of storage proteins in developing soybean cotyledon.
61
|
Wei Z...Qiu L
|
31624827 |
2020 |
| 48 |
A novel interplay between GEFs orchestrates Cdc42 activity during cell polarity and cytokinesis in fission yeast.
61
|
Hercyk BS...Das ME
|
31719163 |
2019 |
| 49 |
SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models.
61
|
Mantegazza M...Broccoli V
|
31904127 |
2019 |
| 50 |
SCN1A-related phenotypes: Epilepsy and beyond.
61
|
Scheffer IE...Nabbout R
|
31904117 |
2019 |
Rare neurological diseases 
