All individuals with variants in gene CACNA1S

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.

119 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	2	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	2	1	Yu Sun
00035068	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035069	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035070	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035071	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	myalgia (belastungsabhängig), muscle stiffness	1	1	Andreas Laner
00035072	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected hyper/hypokaliaemic paralysis; Elektrolytkanalstörung	1	1	Andreas Laner
00035073	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035074	-	-	-	-	-	Germany	-	-	-	-	-	?	hypokaliaemic paralysis	1	1	Andreas Laner
00035075	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035076	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035077	-	-	-	-	-	Germany	-	-	-	-	-	?	episodic hypokaliaemic paralysis at night after eating carbohydrate	1	1	Andreas Laner
00035078	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035079	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035080	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myopathy/myotonia	1	1	Andreas Laner
00035081	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035082	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035083	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035084	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035085	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035086	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035087	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035088	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035089	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035090	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035091	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035092	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035093	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035094	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035095	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035096	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035097	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035098	-	-	-	-	-	Germany	-	-	-	-	-	?	episodic hypokaliaemic paralysis at night after eating carbohydrate	1	1	Andreas Laner
00035099	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035100	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035101	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035102	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035103	-	-	-	-	-	Germany	-	-	-	-	-	?	hypokaliaemic periodical paralysis	1	1	Andreas Laner
00035104	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035105	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035106	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myopathy/myotonia	1	1	Andreas Laner
00035107	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035108	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035109	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035110	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035111	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035112	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035113	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035114	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00110686	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	4	1	Johan den Dunnen
00110687	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	3	1	Johan den Dunnen
00110688	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	3	1	Johan den Dunnen
00110689	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	3	1	Johan den Dunnen
00110690	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	4	1	Johan den Dunnen
00110691	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	4	1	Johan den Dunnen
00110692	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	3	1	Johan den Dunnen
00110693	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	4	1	Johan den Dunnen
00110694	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110695	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110696	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110697	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110698	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	3	1	Johan den Dunnen
00110699	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110700	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110701	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110702	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110703	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	3	1	Johan den Dunnen
00110704	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110705	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110706	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	3	1	Johan den Dunnen
00110707	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110708	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	3	1	Johan den Dunnen
00110709	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110710	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110711	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00110712	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00110713	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00110714	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00110715	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00110716	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00110717	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00110718	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00110719	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00110720	-	Leiden, unpublished	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00110721	-	Elbaz 1995	-	-	-	-	-	-	-	-	-	HOKPP	Hypokalaemic periodic paralysis	1	1	Johan den Dunnen
00110722	-	Houinato 2007	The proband was a 19 years old man. Paralytic attacks began at age 17, had a frequency of two times a year and spontaneously regressed within 2?4 days. His mother and uncle were known to have a similar disorder. The fourth attack leading to the diagnosis	-	-	-	-	-	-	-	-	HOKPP	Hypokalaemic periodic paralysis	1	1	Johan den Dunnen
00110724	-	Jurkat-rott 1994	-	-	-	-	-	-	-	-	-	HOKPP	Hypokalaemic periodic paralysis	1	1	Johan den Dunnen
00110725	-	Jurkat-rott 2000	-	-	-	-	-	-	-	-	-	HOKPP	Hypokalaemic periodic paralysis	1	1	Johan den Dunnen
00110726	-	Kim 2001	-	-	-	-	-	-	-	-	-	HOKPP	Hypokalaemic periodic paralysis	1	1	Johan den Dunnen
00110727	-	Meyer 2007	The index patient (II:4, Fig. 1), a 67-year-old man, was born to unrelated parents. At age 17 he developed period paralysis which was responsive to potassium administration. Permanent residual weakness began at the age of 50 with proximal weakness of the	-	-	-	-	-	-	-	-	HOKPP	Hypokalaemic periodic paralysis	1	1	Johan den Dunnen
00110728	-	Monnier 2000	The proband died after injection with suxamethonium and administration of isoflurane after 90 minutes hyperthermia was observed and although isoflurane was stopped the patient died of cardiac arrest.	-	-	-	-	-	-	-	-	MHS5	Malignant hyperthermia	1	1	Johan den Dunnen
00110729	-	Ptacek 1994	-	-	-	-	-	-	-	-	-	HOKPP	Hypokalaemic periodic paralysis	1	1	Johan den Dunnen
00110730	-	Wang 2005	The proband is a 53-year-old male, first total muscle weakness attack at the age of 16. The attacks usually occur after excessive intake of carbohydrate-rich meals, several hours following strenuous exercise, after sudden exposure	-	-	-	-	-	-	-	-	HOKPP	Hypokalaemic periodic paralysis	1	1	Johan den Dunnen
00174767	Pat901;B10	PubMed: Fichna 2018, PubMed: Macias 2021	-	M	-	Poland	-	-	-	-	-	LGMD	onset overt symptoms adulthood; CPK raised 1.9x; progressive limb-girdle weakness; generalized muscle atrophy; scapular winging, mild distal upper limb weakness; waddling gait with knee hyperextension	1	1	Johan den Dunnen
00289645	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00289646	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00289647	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00289648	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	19	Mohammed Faruq
00289649	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00289650	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq

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Global Variome shared LOVD

CACNA1S (calcium channel, voltage-dependent, L type...)