All individuals with variants in gene SCN4A

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

459 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00022471	-	-	This patient is also diagnosed with sodium channel myotonia	M	no	Belgium	white	-	-	-	-	BRGDA	patient is also diagnosed with sodium channel myotonia	1	1	Uschi Peeters
00029633	-	-	-	M	-	Belgium	white	-	-	-	-	?	diagnosed with sodium channel myotonia; syncopes and non-sustained ventricular tachycardia	1	1	Uschi Peeters
00029634	-	-	-	F	no	Belgium	white	-	-	-	-	PMC	ndividual has an overlap syndrome paramyotonia congenita combined with sodium channel myotonia	1	1	Uschi Peeters
00029635	-	-	-	F	no	Belgium	white	-	-	-	-	PMC	-	1	1	Uschi Peeters
00029636	-	-	-	M	no	Belgium	white	-	-	-	-	BRGDA	individual has also typical myotonia symptoms	1	1	Uschi Peeters
00029637	-	-	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00036913	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia congenita type Thomsen, DD paramyotonia type Eulenburg	1	1	Andreas Laner
00036914	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036915	-	-	-	-	-	Germany	-	-	-	-	-	?	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	-	-	-	-	-	?	suspected paramyotonia congenita, DD myotonia congenita: myasthenia	1	1	Andreas Laner
00036917	-	-	-	-	-	Germany	-	-	-	-	-	?	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	-	-	-	-	-	-	-	1	1	Andreas Laner
00036919	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036920	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia fluctuans, DD paramyotonia congenita, myotonia, paramyotonia	1	1	Andreas Laner
00036921	-	-	-	-	-	Germany	-	-	-	-	-	?	paramyotonia congenita	1	1	Andreas Laner
00036922	-	-	-	-	-	Germany	-	-	-	-	-	?	hypokalemic periodic paralysis	1	1	Andreas Laner
00036923	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036924	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected paramyotonia congenita Eulenburg	1	1	Andreas Laner
00036925	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	muscle disease	1	1	Andreas Laner
00036926	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonia	1	1	Andreas Laner
00036927	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonia	1	1	Andreas Laner
00036928	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036929	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonia,family history: father possibly affected	1	1	Andreas Laner
00036930	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia congenita, DD potassium-sensitive myotonia, myalgia, muscle cramps	1	1	Andreas Laner
00036931	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	mother: myotonia; son: muscle pain (cramps in hand- and foot muscles	1	1	Andreas Laner
00036932	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia	1	1	Andreas Laner
00036933	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonic disease	1	1	Andreas Laner
00036934	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia congenita Becker or Thomsen	1	1	Andreas Laner
00036935	-	-	-	-	-	Germany	-	-	-	-	-	?	rez. Tetraplegien	1	1	Andreas Laner
00036936	-	-	-	-	-	Germany	-	-	-	-	-	?	V.a. Paramyotonia Congenita, Vater sister and her child also affected	1	1	Andreas Laner
00036937	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonic symptoms (clinically and EMG); family history: positive	1	1	Andreas Laner
00036938	-	-	-	-	-	Germany	-	-	-	-	-	?	son: febrile cramps; mother: has epilepsy, in her youth leg weakness	1	1	Andreas Laner
00036939	-	-	-	-	-	Germany	-	-	-	-	-	?	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	-	-	-	-	-	-	-	1	1	Andreas Laner
00036941	-	-	-	-	-	Germany	-	-	-	-	-	?	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	-	-	-	-	-	-	-	1	1	Andreas Laner
00036943	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036944	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonic myopathy; paresis dorsal (left),cataract, cardiac insufficiency, cardiac arrhythmias	1	1	Andreas Laner
00036945	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia congenita, since the 11th year of life intermitted short myotonic reactions (1-6 seconds)	1	1	Andreas Laner
00036946	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036947	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonia; other patient: muscle dystrophy type Becker	1	1	Andreas Laner
00036948	-	-	-	-	-	Germany	-	-	-	-	-	?	paramyotonia congenita	1	1	Andreas Laner
00036949	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036950	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036951	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036952	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036953	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036954	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036955	-	-	-	-	-	Germany	-	-	-	-	-	-	-	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	-	-	-	-	-	?	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	-	-	-	-	myotonia	see paper; ..., sodium channel myotonia	1	1	Masanori Takahashi
00112802	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112803	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112804	-	-	-	-	-	(Germany)	-	-	-	-	-	?	progressive cramps while exercising, several groups of muscles affected, myotonic discharges on EMG	3	1	Birgit Neitzel
00112805	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112806	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112807	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112808	-	-	-	-	-	(Germany)	-	-	-	-	-	?	atonic seizures without loss of consciousness	2	1	Birgit Neitzel
00112809	-	?	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112810	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112811	-	-	-	-	-	(Germany)	-	-	-	-	-	?	periodic hypokaliemic palsies	1	1	Birgit Neitzel
00112812	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112813	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112814	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112815	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112816	-	-	-	-	-	(Germany)	-	-	-	-	-	MGR1	hemiplegic migraine, speech impediments	1	1	Birgit Neitzel
00112817	-	-	-	-	-	(Germany)	-	-	-	-	-	?	myalgia under stress	1	1	Birgit Neitzel
00112818	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112819	-	-	-	-	-	(Germany)	-	-	-	-	-	?	progredient episodes after rest with myalgia and paresis (hands and thighs)	1	1	Birgit Neitzel
00112820	-	-	-	-	-	(Germany)	-	-	-	-	-	?	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)	-	-	-	-	-	?	myotonia during low temperatures, distinct myotonia in the right M. deltoideus on EMG	1	1	Birgit Neitzel
00112822	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112823	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112824	-	-	-	-	-	(Germany)	-	-	-	-	-	?	since more than 20 years progressive cramps, now myotonic symptoms	1	1	Birgit Neitzel
00112825	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112826	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112827	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00112828	-	-	previous analysis of CLCN1 gene without pathogenic mutation	M	no	Norway	-	-	-	-	-	PMC	paramyotonia congenita; Congenital Myotonia	1	1	Angela Abicht
00112829	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Vincent Janmaat
00112830	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	6	1	Vincent Janmaat
00112831	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	10	1	Vincent Janmaat
00112832	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	10	1	Vincent Janmaat
00112833	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Vincent Janmaat
00112834	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	6	1	Vincent Janmaat
00112835	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	6	1	Vincent Janmaat
00112836	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	6	1	Vincent Janmaat
00112837	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	5	1	Vincent Janmaat
00112838	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	8	1	Vincent Janmaat
00112839	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	5	1	Vincent Janmaat
00112840	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	7	1	Vincent Janmaat
00112841	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	7	1	Vincent Janmaat
00112842	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	9	1	Vincent Janmaat
00112843	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	-	6	1	Vincent Janmaat
00112844	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	8	1	Vincent Janmaat
00112845	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	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.	-	-	-	-	-	-	-	-	PMC	-	1	1	Vincent Janmaat
00112847	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	6	1	Vincent Janmaat
00112848	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	5	1	Vincent Janmaat
00112849	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	8	1	Vincent Janmaat
00112850	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	6	1	Vincent Janmaat

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Global Variome shared LOVD

SCN4A (sodium channel, voltage-gated, type IV, alph...)