All individuals with variants in gene SCN4A

413 entries on 5 pages. Showing entries 1 - 100.
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00022471 - - This patient is also diagnosed with sodium channel myotonia M no Belgium Caucasian - 0 - - BRGDA patient is also diagnosed with sodium channel myotonia 1 1 Uschi Peeters
00029633 - - - M - Belgium Caucasian - 0 - - ? diagnosed with sodium channel myotonia; syncopes and non-sustained ventricular tachycardia 1 1 Uschi Peeters
00029634 - - - F no Belgium Caucasian - 0 - - PMC ndividual has an overlap syndrome paramyotonia congenita combined with sodium channel myotonia 1 1 Uschi Peeters
00029635 - - - F no Belgium Caucasian - 0 - - PMC - 1 1 Uschi Peeters
00029636 - - - M no Belgium Caucasian - 0 - - BRGDA individual has also typical myotonia symptoms 1 1 Uschi Peeters
00029637 - - - M no Belgium Caucasian - 0 - - BRGDA - 1 1 Uschi Peeters
00036913 - - - - - Germany - - 0 - - ? suspected myotonia congenita type Thomsen, DD paramyotonia type Eulenburg 1 1 Andreas Laner
00036914 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036915 - - - - - Germany - - 0 - - ? suspected myotonic dystrophy type I., since childhood muscle stiffness, paternal aunt, grand-mother and both children are also affected, myotonia, paresis of both legs 1 1 Andreas Laner
00036916 - - - - - Germany - - 0 - - ? suspected paramyotonia congenita, DD myotonia congenita: myasthenia 1 1 Andreas Laner
00036917 - - - - - Germany - - 0 - - ? suspected clinical myotonia congenita in early childhood; mother, uncle and aunt and children of the maternal aunt: clinical myotonia congenita 1 1 Andreas Laner
00036918 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036919 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036920 - - - - - Germany - - 0 - - ? suspected myotonia fluctuans, DD paramyotonia congenita, myotonia, paramyotonia 1 1 Andreas Laner
00036921 - - - - - Germany - - 0 - - ? paramyotonia congenita 1 1 Andreas Laner
00036922 - - - - - Germany - - 0 - - ? hypokalemic periodic paralysis 1 1 Andreas Laner
00036923 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036924 - - - - - Germany - - 0 - - ? suspected paramyotonia congenita Eulenburg 1 1 Andreas Laner
00036925 - - - - - Germany - - 0 - - myopathy, mitochondrial muscle disease 1 1 Andreas Laner
00036926 - - - - - Germany - - 0 - - ? myotonia 1 1 Andreas Laner
00036927 - - - - - Germany - - 0 - - ? myotonia 1 1 Andreas Laner
00036928 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036929 - - - - - Germany - - 0 - - ? myotonia,family history: father possibly affected 1 1 Andreas Laner
00036930 - - - - - Germany - - 0 - - ? suspected myotonia congenita, DD potassium-sensitive myotonia, myalgia, muscle cramps 1 1 Andreas Laner
00036931 - - - - - Germany - - 0 - - myopathy, mitochondrial mother: myotonia; son: muscle pain (cramps in hand- and foot muscles 1 1 Andreas Laner
00036932 - - - - - Germany - - 0 - - ? suspected myotonia 1 1 Andreas Laner
00036933 - - - - - Germany - - 0 - - ? suspected myotonic disease 1 1 Andreas Laner
00036934 - - - - - Germany - - 0 - - ? suspected myotonia congenita Becker or Thomsen 1 1 Andreas Laner
00036935 - - - - - Germany - - 0 - - ? rez. Tetraplegien 1 1 Andreas Laner
00036936 - - - - - Germany - - 0 - - ? V.a. Paramyotonia Congenita, Vater sister and her child also affected 1 1 Andreas Laner
00036937 - - - - - Germany - - 0 - - ? myotonic symptoms (clinically and EMG); family history: positive 1 1 Andreas Laner
00036938 - - - - - Germany - - 0 - - ? son: febrile cramps; mother: has epilepsy, in her youth leg weakness 1 1 Andreas Laner
00036939 - - - - - Germany - - 0 - - ? suspected hyperkaliämische Hyperkaliämie, periodic paralysis, clinical symptoms after activity, muscle pain,myasthenia and paralysis in the arms ; other patient: suspected paramyotonia congenita type Eulenburg, DD Myotonica congenita Becker, mother also affected 1 1 Andreas Laner
00036940 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036941 - - - - - Germany - - 0 - - ? hyperkalaemic periodic (familiar) paralysis; MGZ #67697: clinical hyperkalaemic periodic paralysis; family history: positive, also affected: mother, 2 sisters, daughter, grand-child; MGZ #67806: myotonia 1 1 Andreas Laner
00036942 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036943 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036944 - - - - - Germany - - 0 - - ? myotonic myopathy; paresis dorsal (left),cataract, cardiac insufficiency, cardiac arrhythmias 1 1 Andreas Laner
00036945 - - - - - Germany - - 0 - - ? suspected myotonia congenita, since the 11th year of life intermitted short myotonic reactions (1-6 seconds) 1 1 Andreas Laner
00036946 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036947 - - - - - Germany - - 0 - - ? myotonia; other patient: muscle dystrophy type Becker 1 1 Andreas Laner
00036948 - - - - - Germany - - 0 - - ? paramyotonia congenita 1 1 Andreas Laner
00036949 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036950 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036951 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036952 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036953 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036954 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036955 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00092266 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/brother F - United States - - 0 - - ? 2 sibs with IDD, congenital hypotonia, myopathy, respiratory & feeding insufficiency, abnormal EMG in both (older sib later in life improved albeit with Marfanoid dysmorphic features, kyphosis, joint hypermobility; †younger sib passed away); mitochondrial respiratory complex I, II and IV deficiency 2 2 Johan den Dunnen
00112801 21412952-Pat PubMed: Kubota 2011, Journal: Kubota 2011 - M - Japan Japanese - 0 - - myotonia see paper; ..., sodium channel myotonia 1 1 Masanori Takahashi
00112802 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112803 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112804 - - - - - (Germany) - - 0 - - ? progressive cramps while exercising, several groups of muscles affected, myotonic discharges on EMG 3 1 Birgit Neitzel
00112805 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112806 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112807 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112808 - - - - - (Germany) - - 0 - - ? atonic seizures without loss of consciousness 2 1 Birgit Neitzel
00112809 - ? - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112810 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112811 - - - - - (Germany) - - 0 - - ? periodic hypokaliemic palsies 1 1 Birgit Neitzel
00112812 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112813 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112814 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112815 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112816 - - - - - (Germany) - - 0 - - MGR-1 hemiplegic migraine, speech impediments 1 1 Birgit Neitzel
00112817 - - - - - (Germany) - - 0 - - ? myalgia under stress 1 1 Birgit Neitzel
00112818 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112819 - - - - - (Germany) - - 0 - - ? progredient episodes after rest with myalgia and paresis (hands and thighs) 1 1 Birgit Neitzel
00112820 - - - - - (Germany) - - 0 - - ? febrile seizures (even without fever, focal, easily adjustable with medication) until about the age of 11, hemiplegic migraine, now recurrent stress-dependant qualms; mother has epilepsy and due to anamnesis weakness in her legs 1 1 Birgit Neitzel
00112821 - - - - - (Germany) - - 0 - - ? myotonia during low temperatures, distinct myotonia in the right M. deltoideus on EMG 1 1 Birgit Neitzel
00112822 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112823 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112824 - - - - - (Germany) - - 0 - - ? since more than 20 years progressive cramps, now myotonic symptoms 1 1 Birgit Neitzel
00112825 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112826 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112827 - - - - - (Germany) - - 0 - - ? - 1 1 Birgit Neitzel
00112828 - - previous analysis of CLCN1 gene without pathogenic mutation M no Norway - - 0 - - PMC paramyotonia congenita; Congenital Myotonia 1 1 Angela Abicht
00112829 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 1 1 Vincent Janmaat
00112830 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 6 1 Vincent Janmaat
00112831 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - 10 1 Vincent Janmaat
00112832 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - 10 1 Vincent Janmaat
00112833 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 1 1 Vincent Janmaat
00112834 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 6 1 Vincent Janmaat
00112835 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 6 1 Vincent Janmaat
00112836 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 6 1 Vincent Janmaat
00112837 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 5 1 Vincent Janmaat
00112838 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 8 1 Vincent Janmaat
00112839 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 5 1 Vincent Janmaat
00112840 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 7 1 Vincent Janmaat
00112841 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 7 1 Vincent Janmaat
00112842 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 9 1 Vincent Janmaat
00112843 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) - 6 1 Vincent Janmaat
00112844 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 8 1 Vincent Janmaat
00112845 - Leiden, unpublished - - - Netherlands - - 0 - - HOKPP - 8 1 Vincent Janmaat
00112846 - Carle [2006] Treatment with a perfusion of KCl induced full recovery of the skeletal muscle function, and normalization of kalemia within a day. - - - - - 0 - - PMC - 1 1 Vincent Janmaat
00112847 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - 6 1 Vincent Janmaat
00112848 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - 5 1 Vincent Janmaat
00112849 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - 8 1 Vincent Janmaat
00112850 - Leiden, unpublished - - - Netherlands - - 0 - - ? - 6 1 Vincent Janmaat
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