Disease #00735 (PMC (paramyotonia congenita (von Eulenburg)), OMIM:168300)

Official abbreviation	PMC
Name	paramyotonia congenita (von Eulenburg)
OMIM ID	168300
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	94
Phenotype entries for this disease	93
Associated with 1 gene	SCN4A
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-11-11 21:49:55 +01:00 (CET)

Individuals

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'

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94 entries on 1 page. Showing entries 1 - 94.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00029634	-	-	-	F	no	Belgium	white	-	-	-	-	PMC	ndividual has an overlap syndrome paramyotonia congenita combined with sodium channel myotonia	SCN4A	SCN4A	1	1	Uschi Peeters
00029635	-	-	-	F	no	Belgium	white	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Uschi Peeters
00111761	59317.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	7	1	Johan den Dunnen
00111766	59265.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	9	1	Johan den Dunnen
00111767	67291.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	PMC	CLCN1	CLCN1	10	1	Johan den Dunnen
00111768	68467.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	7	1	Johan den Dunnen
00111784	55663.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	PMC	CLCN1	CLCN1	2	1	Johan den Dunnen
00111789	57527.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	4	1	Johan den Dunnen
00111790	58141.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	6	1	Johan den Dunnen
00111791	58417.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	1	1	Johan den Dunnen
00111792	60588.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	7	1	Johan den Dunnen
00111793	61487.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	10	1	Johan den Dunnen
00111794	64559.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	3	1	Johan den Dunnen
00111795	69725.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	6	1	Johan den Dunnen
00111796	52152.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	2	1	Johan den Dunnen
00111797	60974.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	Myotonia P	CLCN1	CLCN1	15	1	Johan den Dunnen
00111862	62736.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	10	1	Johan den Dunnen
00111863	63794.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	9	1	Johan den Dunnen
00111874	56843.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	PMC	CLCN1	CLCN1	2	1	Johan den Dunnen
00111921	60779.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	6	1	Johan den Dunnen
00111922	61212.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	2	1	Johan den Dunnen
00111923	65598.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	2	1	Johan den Dunnen
00111924	64958.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	paramyotonia congenita (OMIM168300)	CLCN1	CLCN1	1	1	Johan den Dunnen
00111931	58418.1	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	PMC	CLCN1	CLCN1	7	1	Johan den Dunnen
00112828	-	-	previous analysis of CLCN1 gene without pathogenic mutation	M	no	Norway	-	-	-	-	-	PMC	paramyotonia congenita; Congenital Myotonia	SCN4A	SCN4A	1	1	Angela Abicht
00112831	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	10	1	Vincent Janmaat
00112832	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	10	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	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00112847	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	6	1	Vincent Janmaat
00112848	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	5	1	Vincent Janmaat
00112849	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	8	1	Vincent Janmaat
00112856	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112857	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	7	1	Vincent Janmaat
00112858	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	6	1	Vincent Janmaat
00112866	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	6	1	Vincent Janmaat
00112867	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	6	1	Vincent Janmaat
00112890	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112900	-	Ptácek [1991]	unusually severe interattac weakness	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00112905	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112906	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	4	1	Vincent Janmaat
00112907	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	6	1	Vincent Janmaat
00112935	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	5	1	Vincent Janmaat
00112950	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	4	1	Vincent Janmaat
00112953	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	6	1	Vincent Janmaat
00112963	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112964	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112971	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	4	1	Vincent Janmaat
00112975	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	4	1	Vincent Janmaat
00112976	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00112978	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112981	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00112982	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00112983	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112985	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112986	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112987	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112990	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00112991	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00112993	-	Ptácek [1993]	It results in a PC phenotype.	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00112996	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00112997	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00112998	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	2	1	Vincent Janmaat
00112999	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00113000	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113001	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00113003	-	McClatchey [1992]	Age of onset is 11. Experienced weakness while resting after exercise. During pregnancy these episodes worsened. After birth she develloped hyperkalaemia. After exercise serum potassium levels were elevated and a decline of 91% in the amplitude of the com	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	2	1	Vincent Janmaat
00113004	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113008	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	2	1	Vincent Janmaat
00113009	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00113010	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00113027	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	3	1	Vincent Janmaat
00113037	-	Baquero [1995]	-	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113038	-	Bulman [1999]	A 19-year-old man born to seemingly healthy, unrelated parents experienced a first paralytic attack at age 14. On awakening in the early morning hours, his leg muscles felt tight, achy, and weak so that he could hardly support his weight. On admission to	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113040	-	Heine [1993]	The mutation causes myotonia aggravated by cold and potassium. The inactivation is disrupted, it has become slower.	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113044	-	Lane [2004]	We speculate that thyroid hormone may exert a threshold or permissive effect in hypokalemic periodic paralysis. Non-thyrotoxic family members of individuals with THypoKPP may have an unrecognized risk for paralysis.	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113046	-	Plassart [1996]	Patient BII4 experienced the first attacks of muscle weakness between ages 2 and 3. Several episodes per week occurred between early childhood and the late thirties. The frequency of attacks then decreased. Two types of paralytic episodes were distinguish	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113057	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113060	-	Ferriby [2006]	muscle stiffness and occasional flaccid weakness, both symptoms being induced by exercise, cold and heat.	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113070	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	2	1	Vincent Janmaat
00113071	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113076	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113077	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113080	-	Guo [2004]	The mutation V781I exists in Chinese patients with normoKPP and may be responsible for normoKPP	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113083	-	Rosenfeld [1997]	debelitating pain especially severe in the intercostal muscles. The most severely affected family member responded dramatically to the sodium channel blocking agent flecainide.	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113084	-	Kim [2004]	Incomplete penetrance in women with Arg672Cys mutation was evident. A comparison of the present study with previous studies raises the possibility that hypokalemic periodic paralysis is an allelic-specific or mulfactorial, rather than a gene-specific, dis	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113086	-	Trip [2007]	All patients noticed aggravation of myotonia at cold temperatures and only one patient reported aggravation after eating potassium rich food. They all used sodium channel blockers (mexiletine 200 mg three times a day, procainamide 1000 mg three times a da	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113087	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	PMC	-	SCN4A	SCN4A	2	1	Vincent Janmaat
00113094	-	Bendahhou [2001]	Treatment with acetazolamide resulted in severe puadripariesis. Probably variable expression within one family	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113096	-	Miller [2004]	The patient had a combination with the benign known polymorphism S906T, which was found in 4% of healthy controls, and had a classic PC phenotype.	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113098	-	Rudel [1993]	-	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113099	-	Sugiura [2000]	A 33-year-old man had noticed his first attack of paralysis at age 13. He had experienced grip, leg, and eyelid myotonia since age 25.The patient suffered from heat-induced myotonia and cold-induced paralysis.	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00113101	-	Wang [2006]	-	-	-	-	-	-	-	-	-	PMC	-	SCN4A	SCN4A	1	1	Vincent Janmaat
00377155	180428	-	-	M	no	Germany	-	-	-	-	-	PMC	Muscle weakness, Paraparesis, Distal muscle weakness, EMG abnormality, Proximal muscle weakness, Paraplegia/paraparesis, EMG: myotonic discharges	SCN4A	SCN4A	1	1	Andreas Laner
00388271	187118	-	-	M	no	Austria	-	-	-	-	-	PMC	Myotonia, clinically paramyotonia congenita, daughter with similar syptomatics	SCN4A	SCN4A	1	1	Andreas Laner

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How to query

Global Variome shared LOVD

MSH6 (mutS homolog 6 (E. coli))