scholarly journals Corrigendum to “Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10” [Brain Dev 2019]

2019 ◽  
Vol 41 (8) ◽  
pp. 716
Author(s):  
Ali Mir ◽  
Mohammed Chaudhary ◽  
Hani Alkhaldi ◽  
Rami Alhazmi ◽  
Raidah Albaradie ◽  
...  
Keyword(s):  
East Syndrome

Psychiatric Manifestation of EAST Syndrome

2016 ◽  
Vol 36 (2) ◽  
pp. 185-187
Author(s):  
Simone Pisano ◽  
Francesca Felicia Operto ◽  
Tullio Messana ◽  
Claudia Nicoletti ◽  
Giangennaro Coppola
Keyword(s):  
Psychiatric Manifestation ◽  
East Syndrome

PHYSICAL THERAPY INTERVENTION FOR PATIENT WITH EAST SYNDROME- A CASE STUDY.

2021 ◽  
pp. 74-77
Author(s):  
Kinjal Bagthariya(M.P.T)
Keyword(s):  
Physical Therapy ◽  
Motor Function ◽  
Motor Performance ◽  
Treatment Approach ◽  
Sensorineural Deafness ◽  
Gross Motor ◽  
East Syndrome ◽  
Therapy Intervention ◽  
Physical Therapy Intervention

EAST syndrome is autosomal recessive disorder due to mutations in gene KCNJ10, a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. It is characterized by four cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and renal salt-wasting Tubulopathy, thus the acronym EAST syndrome. It was rst described as a distinct clinical entity in 2009 by Bockenhauer and scholl, who named this condition EAST syndrome and SeSAME syndrome for Seizures, Sensorineural deafness, Ataxia, Mental retardation and Electrolyte imbalance respectively. Neurodevelopmental delay is evident in most patients with EAST syndrome that were old enough to be assessed; Thus, physiotherapy intervention also plays a vital role in EAST syndrome along with medical management. From physiotherapy perspective; symptomatic management to Improve overall health, wellbeing and motor control becomes ultimate goal in the patient with EAST syndrome. As there is no specic physical therapy treatment approach and no specic tool to evaluate function for children with EAST syndrome; for clinically presented delay development and ataxia, Neurodevelopment therapy (NDT) was utilized as treatment approach and Gross motor function measure (GMFM) & Gross motor performance measure (GMPM) were utilized for assessment in this case study to track progress on follow ups. Result showed marked improvement in GMFM and GMPM scores at follow ups and concluded that Physical therapy intervention improves the gross motor function as well as gross motor performance in patient with EAST syndrome.

P246 – 1918 EAST syndrome in a European child with KCNJ10 mutation

2013 ◽  
Vol 17 ◽  
pp. S121
Author(s):  
A Foska ◽  
M Nagel ◽  
J Ioannou ◽  
G Dervenoulas ◽  
A Papavasiliou
Keyword(s):  
European Child ◽  
East Syndrome

SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule

2012 ◽  
Vol 27 (11) ◽  
pp. 2081-2090 ◽  
Author(s):  
Ute I. Scholl ◽  
Haatal B. Dave ◽  
Ming Lu ◽  
Anita Farhi ◽  
Carol Nelson-Williams ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Distal Convoluted Tubule ◽  
East Syndrome

046 EAST syndrome: probable closure in many an adult case

2012 ◽  
Vol 83 (3) ◽  
pp. e1.211-e1
Author(s):  
D K Gandhi ◽  
S Philip ◽  
S Agrawal ◽  
E Wassmer ◽  
R Gupta
Keyword(s):  
Adult Case ◽  
East Syndrome

scholarly journals Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome

2011 ◽  
Vol 108 (25) ◽  
pp. 10361-10366 ◽  
Author(s):  
M. Paulais ◽  
M. Bloch-Faure ◽  
N. Picard ◽  
T. Jacques ◽  
S. K. Ramakrishnan ◽  
...  
Keyword(s):  
K Channel ◽  
East Syndrome ◽  
Renal Phenotype

scholarly journals Potassium conservation is impaired in mice with reduced renal expression of Kir4.1

2018 ◽  
Vol 315 (5) ◽  
pp. F1271-F1282 ◽  
Author(s):  
Sundeep Malik ◽  
Emily Lambert ◽  
Junhui Zhang ◽  
Tong Wang ◽  
Heather L. Clark ◽  
...  
Keyword(s):  
Collecting Duct ◽  
K Channel ◽  
Cortical Collecting Duct ◽  
Wild Type ◽  
Distal Nephron ◽  
East Syndrome ◽  
Renal Expression ◽  
Modest Reduction ◽  
Concentrating Defect

To better understand the role of the inward-rectifying K channel Kir4.1 (KCNJ10) in the distal nephron, we initially studied a global Kir4.1 knockout mouse (gKO), which demonstrated the hypokalemia and hypomagnesemia seen in SeSAME/EAST syndrome and was associated with reduced Na/Cl cotransporter (NCC) expression. Lethality by ~3 wk, however, limits the usefulness of this model, so we developed a kidney-specific Kir4.1 “knockdown” mouse (ksKD) using a cadherin 16 promoter and Cre-loxP methodology. These mice appeared normal and survived to adulthood. Kir4.1 protein expression was decreased ~50% vs. wild-type (WT) mice by immunoblotting, and immunofluorescence showed moderately reduced Kir4.1 staining in distal convoluted tubule that was minimal or absent in connecting tubule and cortical collecting duct. Under control conditions, the ksKD mice showed metabolic alkalosis and relative hypercalcemia but were normokalemic and mildly hypermagnesemic despite decreased NCC expression. In addition, the mice had a severe urinary concentrating defect associated with hypernatremia, enlarged kidneys with tubulocystic dilations, and reduced aquaporin-3 expression. On a K/Mg-free diet for 1 wk, however, ksKD mice showed marked hypokalemia (serum K: 1.5 ± 0.1 vs. 3.0 ± 0.1 mEq/l for WT), which was associated with renal K wasting (transtubular K gradient: 11.4 ± 0.8 vs. 1.6 ± 0.4 in WT). Phosphorylated-NCC expression increased in WT but not ksKD mice on the K/Mg-free diet, suggesting that loss of NCC adaptation underlies the hypokalemia. In conclusion, even modest reduction in Kir4.1 expression results in impaired K conservation, which appears to be mediated by reduced expression of activated NCC.

scholarly journals Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

2011 ◽  
Vol 589 (7) ◽  
pp. 1681-1689 ◽  
Author(s):  
Dorothy A. Thompson ◽  
Sally Feather ◽  
Horia C. Stanescu ◽  
Bernard Freudenthal ◽  
Anselm A. Zdebik ◽  
...  
Keyword(s):  
East Syndrome
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