All individuals with variants in gene ATP1A2

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.

319 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		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
00034820	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034821	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034822	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034823	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034824	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034825	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034826	-	-	-	-	-	Germany	-	-	-	-	-	?	hemiplegic migraine	1	1	Andreas Laner
00034827	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034828	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034829	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034830	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034831	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034832	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034833	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034834	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034835	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034836	-	-	-	-	-	Germany	-	-	-	-	-	?	relapsing Migraine attacks with vision defect, Paraesthesia, Paresis and Aphasia, 2x consciousness disturbance, positive family history	1	1	Andreas Laner
00034837	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034838	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034839	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034840	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034841	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034842	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034843	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034844	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00108543	-	PubMed: Tonelli 2007	Ped2: 1 mutation carrier	-	-	-	-	-	-	-	-	FHM2	migraine, sporadic hemiplegic	1	1	Boukje de Vries
00108544	-	-	1 family: 4 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	4	Boukje de Vries
00108545	-	PubMed: Jen 2007	1 variant carrier	-	-	-	-	-	-	-	-	FHM2	migraine, sporadic hemiplegic	1	1	Boukje de Vries
00108546	-	PubMed: Spadaro 2004	11 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	11	Boukje de Vries
00108547	-	PubMed: Deprez 2007	11 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	11	Boukje de Vries
00108548	-	PubMed: Kaunisto 2004	12 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	12	Boukje de Vries
00108549	-	PubMed: Castro 2007	2 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	2	Boukje de Vries
00108550	-	PubMed: Riant 2005	2 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	2	Boukje de Vries
00108551	-	NEW: De Vries 2008	2 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	2	Boukje de Vries
00108552	-	PubMed: Jen 2007	2 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	2	Boukje de Vries
00108553	-	PubMed: Fernandez 2008	20 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	20	Boukje de Vries
00108554	-	PubMed: Vanmolkot 2007	3 variant carriers;o cmpound heterozygosity	-	-	-	-	-	-	-	-	FHM2	-	1	3	Boukje de Vries
00108555	-	PubMed: Pierelli 2006	3 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	3	Boukje de Vries
00108556	-	PubMed: Castro 2007	3 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	3	Boukje de Vries
00108557	-	NEW: De Vries 2008	3 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	3	Boukje de Vries
00108558	-	PubMed: Bassi 2004	4 variant carriers;A lso published by PubMed: Swoboda 2004	-	-	-	-	-	-	-	-	AHC1	-	1	4	Boukje de Vries
00108559	-	PubMed: Vanmolkot 2007	4 variant carriers;C ompound heterozygosity	-	-	-	-	-	-	-	-	FHM2	-	1	4	Boukje de Vries
00108560	-	PubMed: Ambrosini 2005	4 variant carriers	-	-	-	-	-	-	-	-	FHM2	Basilar-type migraine	1	1	Boukje de Vries
00108561	-	PubMed: Vanmolkot 2006	5 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	5	Boukje de Vries
00108562	-	PubMed: De Vries 2007	Fam 3: 1 variant carrier	-	-	-	-	-	-	-	-	FHM2	migraine, sporadic hemiplegic	1	1	Boukje de Vries
00108563	-	PubMed: De Vries 2007	Fam 4: 1 variant carrier	-	-	-	-	-	-	-	-	FHM2	migraine, sporadic hemiplegic	1	1	Boukje de Vries
00108564	-	PubMed: De Vries 2007	Fam 5: 3 variant carriers	-	-	-	-	-	-	-	-	FHM2	migraine, sporadic hemiplegic	1	3	Boukje de Vries
00108565	-	PubMed: De Vries 2007	Fam 6: 1 variant carrier	-	-	-	-	-	-	-	-	FHM2	migraine, sporadic hemiplegic	1	1	Boukje de Vries
00108566	-	PubMed: Riant 2005	Family 1: 15 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	15	Boukje de Vries
00108567	-	PubMed: De Fusco 2003	Family 1: 22 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	22	Boukje de Vries
00108568	-	PubMed: Castro 2007	Family 1: 4 variant carriers, Family 2: 10 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	14	Boukje de Vries
00108569	-	PubMed: Vanmolkot 2006	Family 1: 7 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	7	Boukje de Vries
00108570	-	PubMed: Jen 2007	Family 10: 3 variant carriers; Family 12: 5 variant carriers; Family 25: 2 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	3	Boukje de Vries
00108571	-	PubMed: Vanmolkot 2003	Family 2: 10 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	10	Boukje de Vries
00108572	-	PubMed: Vanmolkot 2006	Family 2: 2 mtuation carriers	-	-	-	-	-	-	-	-	FHM2	-	1	2	Boukje de Vries
00108573	-	PubMed: Riant 2005	Family 2: 6 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	6	Boukje de Vries
00108574	-	PubMed: De Fusco 2003	Family 2: 7 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	7	Boukje de Vries
00108575	-	PubMed: Riant 2005	Family 22: 2 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	2	Boukje de Vries
00108576	-	PubMed: Riant 2005	Family 24: 2 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	2	Boukje de Vries
00108577	-	PubMed: Riant 2005	Family 3: 8 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	8	Boukje de Vries
00108578	-	PubMed: Riant 2005	Family 4: 7 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	7	Boukje de Vries
00108579	-	PubMed: Castro 2007	Family 6: 3 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	3	Boukje de Vries
00108580	-	PubMed: Thomsen 2007	Family 6005: 11 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	11	Boukje de Vries
00108581	-	PubMed: Thomsen 2007	3 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	3	Boukje de Vries
00108582	-	PubMed: Thomsen 2007	Family 6016: 4 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	4	Boukje de Vries
00108583	-	PubMed: Riant 2005	Family 8: 6 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	6	Boukje de Vries
00108584	-	PubMed: Jurkat-Rott 2004	Family A: 7 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	7	Boukje de Vries
00108585	-	PubMed: Jurkat-Rott 2004	Family B: 5 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	5	Boukje de Vries
00108586	-	PubMed: Riant 2005	2 variant carriers; p.X1021Arg (followed by 27 residues prior to the stop codon, PHWKKNQAWKDGELWRCCGDGDGEGWKX)	-	-	-	-	-	-	-	-	FHM2	-	1	2	Boukje de Vries
00108587	-	PubMed: Jurkat-Rott 2004	Family D: 3 variant carriers	-	-	-	-	-	-	-	-	FHM2	-	1	3	Boukje de Vries
00108588	-	PubMed: Jurkat-Rott 2004	Family E: 1 variant carrier	-	-	-	-	-	-	-	-	FHM2	migraine, sporadic hemiplegic	1	1	Boukje de Vries
00108589	-	PubMed: Jurkat-Rott 2004	Family F: 1 variant carrier	-	-	-	-	-	-	-	-	FHM2	migraine, sporadic hemiplegic	1	1	Boukje de Vries
00108590	-	PubMed: Jurkat-Rott 2004	Family G: 1 variant carrier	-	-	-	-	-	-	-	-	FHM2	migraine, sporadic hemiplegic	1	1	Boukje de Vries
00108592	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108593	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108594	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	4	Birgit Neitzel
00108595	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108596	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00108597	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108598	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00108599	-	-	-	-	-	(Germany)	-	-	-	-	-	?	-	1	1	Birgit Neitzel
00108600	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108601	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108602	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108603	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108604	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108605	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108606	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108607	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108608	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108609	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108610	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108611	-	PubMed: Tonelli 2007	Ped1: 3 mutation carriers	-	-	-	-	-	-	-	-	FHM2	-	1	3	Boukje de Vries
00108612	-	PubMed: De Vries 2007	Fam2: 1 mutation carrier	-	-	-	-	-	-	-	-	FHM2	migraine, sporadic hemiplegic	1	1	Boukje de Vries
00207087	-	PubMed: Tonelli 2007	Triggering factors of hemiplegic migraine: physical and emotional stress	F	-	Italy	-	-	-	-	Triptans	migraine	1st hemiplegic migraine attack 30y, duration 1st aura 3-5hmin, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 3-4h, 1st HMA moderate	1	1	Paola Carrera
00207088	-	PubMed: Tonelli 2007	Triggering factors of hemiplegic migraine: physical and emotional stress	F	-	Italy	-	-	-	-	Triptans	migraine	1st hemiplegic migraine attack 40y, duration 1st aura 1-3dmin, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 5-6h, 1st HMA severe	1	1	Paola Carrera
00207089	-	PubMed: Tonelli 2007	Triggering factors of hemiplegic migraine: physical and emotional stress	M	-	Italy	-	-	-	-	Triptans	migraine	1st hemiplegic migraine attack 14y, duration 1st aura 1-3dmin, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 3-4h, 1st HMA severe	1	1	Paola Carrera
00207090	-	PubMed: Riant 2005	Genotyping of relatives identified 6 mutation carriers, among whom 5 were clinically affected. In addition 1 phenocopy was present.	F	-	France	-	-	-	-	no treatment known	migraine	1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence	1	1	Paola Carrera
00207091	-	PubMed: Vanmolkot 2007	-	-	-	-	-	-	-	-	no treatment known	migraine	1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence	2	3	Paola Carrera
00207092	-	PubMed: Spadaro 2004	-	F	-	Italy	-	-	-	-	no treatment known	migraine	1st hemiplegic migraine attack 52y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia, MRI(72 years) marked cerebellar and vermis atrophy	1	1	Paola Carrera

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Global Variome shared LOVD

ATP1A2 (ATPase, Na+/K+ transporting, alpha 2 polype...)