Disease #01410

Official abbreviation HKPX
Name hyperekplexia, hereditary (HKPX)
OMIM ID 149400
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 35
Phenotype entries for this disease 35
Associated with 2 genes GLRA1, GPHN
Associated tissues -
Disease features -
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Individuals

35 entries on 1 page. Showing entries 1 - 35.
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00112202 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112203 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112204 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112205 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112206 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 2 1 Johan den Dunnen
00112207 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112208 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112209 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112210 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 2 1 Johan den Dunnen
00112211 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 2 1 Johan den Dunnen
00112212 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112213 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112214 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112215 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112216 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112217 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112218 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112219 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112220 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112221 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112222 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112223 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 2 1 Johan den Dunnen
00112224 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112225 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112226 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112227 - Humeny [2002] - - - - - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112228 - Saul [1999] In a pedigree showing dominant transmission of hyperekplexia, - - - - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112229 - Becker [2007] - - - - - - 0 - - HKPX Symptoms of stiff baby syndrome in the index patient (30-3, age=5 weeks) were diagnosed clinically shortly after birth, After birth, patient 30-3 suffered from severe muscular hypertonia and hyperreflexia. GLRA1 GLRA1 1 1 Johan den Dunnen
00112230 - Lapunzina [2003] Mutations in this hot spot domain of GLRA1 are frequent in autosomal dominant hyperekplexia but are not usually seen in the autosomal recessive form of the disease in which both the M1 and the carboxy terminal domains have been implicated. - - - - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112231 - Elmslie [1996] - - - - - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112232 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112233 - Kang [2008] - - - Korea - - 0 - - HKPX male infant with generalized stiffness that was observed from the first 3 days of life. He showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam. GLRA1 GLRA1 1 1 Johan den Dunnen
00112234 - Elmslie [1996] - - - - - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00112235 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - GLRA1 GLRA1 1 1 Johan den Dunnen
00163755 - - - - - - - - 0 - - HKPX - GLRA1 GLRA1 2 1 Ivan Milenkovic
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